Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.[29942822A>G;29942863C>T;29942965G>C;29942982T>A;29942984G>A;29942985A>G;29942990G>C;29942994C>T;29942996C>G;29942997T>C;29943000G>T;29943002G>C;29943287A>G;29943309T>C;29943321T>C;29943337G>A;29943372C>T;29943426A>C;29943448A>G;29943451A>T;29943479T>G] , CM000668.2:g.[29942822A>G;29942863C>T;29942965G>C;29942982T>A;29942984G>A;29942985A>G;29942990G>C;29942994C>T;29942996C>G;29942997T>C;29943000G>T;29943002G>C;29943287A>G;29943309T>C;29943321T>C;29943337G>A;29943372C>T;29943426A>C;29943448A>G;29943451A>T;29943479T>G]	GRCh38
NC_000006.11:g.[29910599A>G;29910640C>T;29910742G>C;29910759T>A;29910761G>A;29910762A>G;29910767G>C;29910771C>T;29910773C>G;29910774T>C;29910777G>T;29910779G>C;29911064A>G;29911086T>C;29911098T>C;29911114G>A;29911149C>T;29911203A>C;29911225A>G;29911228A>T;29911256T>G] , CM000668.1:g.[29910599A>G;29910640C>T;29910742G>C;29910759T>A;29910761G>A;29910762A>G;29910767G>C;29910771C>T;29910773C>G;29910774T>C;29910777G>T;29910779G>C;29911064A>G;29911086T>C;29911098T>C;29911114G>A;29911149C>T;29911203A>C;29911225A>G;29911228A>T;29911256T>G]	GRCh37
NC_000006.10:g.[30018578A>G;30018619C>T;30018721G>C;30018738T>A;30018740G>A;30018741A>G;30018746G>C;30018750C>T;30018752C>G;30018753T>C;30018756G>T;30018758G>C;30019043A>G;30019065T>C;30019077T>C;30019093G>A;30019128C>T;30019182A>C;30019204A>G;30019207A>T;30019235T>G]	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000638375.2:c.[139A>G;180C>T;282G>C;299T>A;301G>A;302A>G;307G>C;311C>T;313C>G;314T>C;317G>T;319G>C;363A>G;385T>C;397T>C;413G>A;448C>T;502A>C;524A>G;527A>T;555T>G]	ENSP00000492789.2:p.[Ile47Val;Phe60=;Gln9...
ENST00000706892.1:n.[415A>G;456C>T;558G>C;575T>A;577G>A;578A>G;583G>C;587C>T;589C>G;590T>C;593G>T;595G>C;639A>G;661T>C;673T>C;689G>A;724C>T;778A>C;800A>G;803A>T;831T>G]
ENST00000706893.1:c.[139A>G;180C>T;282G>C;299T>A;301G>A;302A>G;307G>C;311C>T;313C>G;314T>C;317G>T;319G>C;363A>G;385T>C;397T>C;413G>A;448C>T;502A>C;524A>G;527A>T;555T>G]	ENSP00000516609.1:p.[Ile47Val;Phe60=;Gln9...
ENST00000706894.1:c.[139A>G;180C>T;282G>C;299T>A;301G>A;302A>G;307G>C;311C>T;313C>G;314T>C;317G>T;319G>C;363A>G;385T>C;397T>C;413G>A;448C>T;502A>C;524A>G;527A>T;555T>G]	ENSP00000516610.1:p.[Ile47Val;Phe60=;Gln9...
ENST00000706895.1:n.[415A>G;456C>T;558G>C;575T>A;577G>A;578A>G;583G>C;587C>T;589C>G;590T>C;593G>T;595G>C;639A>G;661T>C;673T>C;689G>A;724C>T;778A>C;800A>G;803A>T;831T>G]
ENST00000706896.1:n.[415A>G;456C>T;558G>C;575T>A;577G>A;578A>G;583G>C;587C>T;589C>G;590T>C;593G>T;595G>C;639A>G;661T>C;673T>C;689G>A;724C>T;778A>C;800A>G;803A>T;831T>G]
ENST00000706897.1:n.[415A>G;456C>T;558G>C;575T>A;577G>A;578A>G;583G>C;587C>T;589C>G;590T>C;593G>T;595G>C;639A>G;661T>C;673T>C;689G>A;724C>T;778A>C;800A>G;803A>T;831T>G]
ENST00000706898.1:c.[139A>G;180C>T;282G>C;299T>A;301G>A;302A>G;307G>C;311C>T;313C>G;314T>C;317G>T;319G>C;363A>G;385T>C;397T>C;413G>A;448C>T;502A>C;524A>G;527A>T;555T>G]	ENSP00000516611.1:p.[Ile47Val;Phe60=;Gln9...
ENST00000706899.1:n.[415A>G;456C>T;558G>C;575T>A;577G>A;578A>G;583G>C;587C>T;589C>G;590T>C;593G>T;595G>C;639A>G;661T>C;673T>C;689G>A;724C>T;778A>C;800A>G;803A>T;831T>G]
ENST00000706900.1:c.[55A>G;96C>T;198G>C;215T>A;217G>A;218A>G;223G>C;227C>T;229C>G;230T>C;233G>T;235G>C;279A>G;301T>C;313T>C;329G>A;364C>T;418A>C;440A>G;443A>T;471T>G]	ENSP00000516617.1:p.[Ile19Val;Phe32=;Gln6...
ENST00000706901.1:c.[139A>G;180C>T;282G>C;299T>A;301G>A;302A>G;307G>C;311C>T;313C>G;314T>C;317G>T;319G>C;363A>G;385T>C;397T>C;413G>A;448C>T;502A>C;524A>G;527A>T;555T>G]	ENSP00000516612.1:p.[Ile47Val;Phe60=;Gln9...
ENST00000706902.1:c.[139A>G;180C>T;282G>C;299T>A;301G>A;302A>G;307G>C;311C>T;313C>G;314T>C;317G>T;319G>C;363A>G;385T>C;397T>C;413G>A;448C>T;502A>C;524A>G;527A>T;555T>G]	ENSP00000516613.1:p.[Ile47Val;Phe60=;Gln9...
ENST00000706903.1:c.[139A>G;180C>T;282G>C;299T>A;301G>A;302A>G;307G>C;311C>T;313C>G;314T>C;317G>T;319G>C;363A>G;385T>C;397T>C;413G>A;448C>T;502A>C;524A>G;527A>T;555T>G]	ENSP00000516614.1:p.[Ile47Val;Phe60=;Gln9...
ENST00000706904.1:c.[139A>G;180C>T;282G>C;299T>A;301G>A;302A>G;307G>C;311C>T;313C>G;314T>C;317G>T;319G>C;363A>G;385T>C;397T>C;413G>A;448C>T;502A>C;524A>G;527A>T;555T>G]	ENSP00000516615.1:p.[Ile47Val;Phe60=;Gln9...
ENST00000706905.1:c.[139A>G;180C>T;282G>C;299T>A;301G>A;302A>G;307G>C;311C>T;313C>G;314T>C;317G>T;319G>C;363A>G;385T>C;397T>C;413G>A;448C>T;502A>C;524A>G;527A>T;555T>G]	ENSP00000516616.1:p.[Ile47Val;Phe60=;Gln9...
ENST00000376809.10:c.[139A>G;180C>T;282G>C;299T>A;301G>A;302A>G;307G>C;311C>T;313C>G;314T>C;317G>T;319G>C;363A>G;385T>C;397T>C;413G>A;448C>T;502A>C;524A>G;527A>T;555T>G] MANE Select	ENSP00000366005.5:p.[Ile47Val;Phe60=;Gln9...
ENST00000638375.1:c.[139A>G;180C>T;282G>C;299T>A;301G>A;302A>G;307G>C;311C>T;313C>G;314T>C;317G>T;319G>C;363A>G;385T>C;397T>C;413G>A;448C>T;502A>C;524A>G;527A>T;555T>G]	ENSP00000492789.1:p.[Ile47Val;Phe60=;Gln9...
ENST00000376802.2:c.[139A>G;180C>T;282G>C;299T>A;301G>A;302A>G;307G>C;311C>T;313C>G;314T>C;317G>T;319G>C;363A>G;385T>C;397T>C;413G>A;448C>T;502A>C;524A>G;527A>T;555T>G]	ENSP00000365998.2:p.[Ile47Val;Phe60=;Gln9...
ENST00000376806.9:c.[139A>G;180C>T;282G>C;299T>A;301G>A;302A>G;307G>C;311C>T;313C>G;314T>C;317G>T;319G>C;363A>G;385T>C;397T>C;413G>A;448C>T;502A>C;524A>G;527A>T;555T>G]	ENSP00000366002.5:p.[Ile47Val;Phe60=;Gln9...
ENST00000376809.9:c.[139A>G;180C>T;282G>C;299T>A;301G>A;302A>G;307G>C;311C>T;313C>G;314T>C;317G>T;319G>C;363A>G;385T>C;397T>C;413G>A;448C>T;502A>C;524A>G;527A>T;555T>G]	ENSP00000366005.5:p.[Ile47Val;Phe60=;Gln9...
ENST00000396634.5:c.[139A>G;180C>T;282G>C;299T>A;301G>A;302A>G;307G>C;311C>T;313C>G;314T>C;317G>T;319G>C;363A>G;385T>C;397T>C;413G>A;448C>T;502A>C;524A>G;527A>T;555T>G]	ENSP00000379873.1:p.[Ile47Val;Phe60=;Gln9...
ENST00000461903.1:n.[139A>G;180C>T;282G>C;299T>A;301G>A;302A>G;307G>C;311C>T;313C>G;314T>C;317G>T;319G>C;604A>G;626T>C;638T>C;654G>A;689C>T;743A>C;765A>G;768A>T;796T>G]
ENST00000479320.5:n.[139A>G;180C>T;282G>C;299T>A;301G>A;302A>G;307G>C;311C>T;313C>G;314T>C;317G>T;319G>C;604A>G;626T>C;638T>C;654G>A;689C>T;743A>C;765A>G;768A>T;796T>G]
ENST00000495183.5:n.[141A>G;182C>T;284G>C;301T>A;303G>A;304A>G;309G>C;313C>T;315C>G;316T>C;319G>T;321G>C;606A>G;628T>C;640T>C;656G>A;691C>T;745A>C;767A>G;770A>T;798T>G]
ENST00000496081.5:n.[145A>G;177+9C>T;177+111G>C;177+128T>A;177+130G>A;177+131A>G;177+136G>C;177+140C>T;177+142C>G;177+143T>C;177+146G>T;177+148G>C;180A>G;202T>C;214T>C;230G>A;265C>T;319A>C;341A>G;344A>T;372T>G]
NM_002116.7:c.[139A>G;180C>T;282G>C;299T>A;301G>A;302A>G;307G>C;311C>T;313C>G;314T>C;317G>T;319G>C;363A>G;385T>C;397T>C;413G>A;448C>T;502A>C;524A>G;527A>T;555T>G]	NP_002107.3:p.[Ile47Val;Phe60=;Gln94His;V...
NM_002116.8:c.[139A>G;180C>T;282G>C;299T>A;301G>A;302A>G;307G>C;311C>T;313C>G;314T>C;317G>T;319G>C;363A>G;385T>C;397T>C;413G>A;448C>T;502A>C;524A>G;527A>T;555T>G] MANE Select	NP_002107.3:p.[Ile47Val;Phe60=;Gln94His;V...