Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.[29942796G>A;29942863C>T;29942965G>C;29943287A>G;29943309T>C;29943321T>C;29943337G>A;29943372C>T;29943426A>C;29943448A>G;29943451A>T;29943479T>G] , CM000668.2:g.[29942796G>A;29942863C>T;29942965G>C;29943287A>G;29943309T>C;29943321T>C;29943337G>A;29943372C>T;29943426A>C;29943448A>G;29943451A>T;29943479T>G]	GRCh38
NC_000006.11:g.[29910573G>A;29910640C>T;29910742G>C;29911064A>G;29911086T>C;29911098T>C;29911114G>A;29911149C>T;29911203A>C;29911225A>G;29911228A>T;29911256T>G] , CM000668.1:g.[29910573G>A;29910640C>T;29910742G>C;29911064A>G;29911086T>C;29911098T>C;29911114G>A;29911149C>T;29911203A>C;29911225A>G;29911228A>T;29911256T>G]	GRCh37
NC_000006.10:g.[30018552G>A;30018619C>T;30018721G>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.[113G>A;180C>T;282G>C;363A>G;385T>C;397T>C;413G>A;448C>T;502A>C;524A>G;527A>T;555T>G]	ENSP00000492789.2:p.[Arg38Gln;Phe60=;Gln94His;Ile121Met;Ser12...
ENST00000706892.1:n.[389G>A;456C>T;558G>C;639A>G;661T>C;673T>C;689G>A;724C>T;778A>C;800A>G;803A>T;831T>G]
ENST00000706893.1:c.[113G>A;180C>T;282G>C;363A>G;385T>C;397T>C;413G>A;448C>T;502A>C;524A>G;527A>T;555T>G]	ENSP00000516609.1:p.[Arg38Gln;Phe60=;Gln94His;Ile121Met;Ser12...
ENST00000706894.1:c.[113G>A;180C>T;282G>C;363A>G;385T>C;397T>C;413G>A;448C>T;502A>C;524A>G;527A>T;555T>G]	ENSP00000516610.1:p.[Arg38Gln;Phe60=;Gln94His;Ile121Met;Ser12...
ENST00000706895.1:n.[389G>A;456C>T;558G>C;639A>G;661T>C;673T>C;689G>A;724C>T;778A>C;800A>G;803A>T;831T>G]
ENST00000706896.1:n.[389G>A;456C>T;558G>C;639A>G;661T>C;673T>C;689G>A;724C>T;778A>C;800A>G;803A>T;831T>G]
ENST00000706897.1:n.[389G>A;456C>T;558G>C;639A>G;661T>C;673T>C;689G>A;724C>T;778A>C;800A>G;803A>T;831T>G]
ENST00000706898.1:c.[113G>A;180C>T;282G>C;363A>G;385T>C;397T>C;413G>A;448C>T;502A>C;524A>G;527A>T;555T>G]	ENSP00000516611.1:p.[Arg38Gln;Phe60=;Gln94His;Ile121Met;Ser12...
ENST00000706899.1:n.[389G>A;456C>T;558G>C;639A>G;661T>C;673T>C;689G>A;724C>T;778A>C;800A>G;803A>T;831T>G]
ENST00000706900.1:c.[29G>A;96C>T;198G>C;279A>G;301T>C;313T>C;329G>A;364C>T;418A>C;440A>G;443A>T;471T>G]	ENSP00000516617.1:p.[Arg10Gln;Phe32=;Gln66His;Ile93Met;Ser101...
ENST00000706901.1:c.[113G>A;180C>T;282G>C;363A>G;385T>C;397T>C;413G>A;448C>T;502A>C;524A>G;527A>T;555T>G]	ENSP00000516612.1:p.[Arg38Gln;Phe60=;Gln94His;Ile121Met;Ser12...
ENST00000706902.1:c.[113G>A;180C>T;282G>C;363A>G;385T>C;397T>C;413G>A;448C>T;502A>C;524A>G;527A>T;555T>G]	ENSP00000516613.1:p.[Arg38Gln;Phe60=;Gln94His;Ile121Met;Ser12...
ENST00000706903.1:c.[113G>A;180C>T;282G>C;363A>G;385T>C;397T>C;413G>A;448C>T;502A>C;524A>G;527A>T;555T>G]	ENSP00000516614.1:p.[Arg38Gln;Phe60=;Gln94His;Ile121Met;Ser12...
ENST00000706904.1:c.[113G>A;180C>T;282G>C;363A>G;385T>C;397T>C;413G>A;448C>T;502A>C;524A>G;527A>T;555T>G]	ENSP00000516615.1:p.[Arg38Gln;Phe60=;Gln94His;Ile121Met;Ser12...
ENST00000706905.1:c.[113G>A;180C>T;282G>C;363A>G;385T>C;397T>C;413G>A;448C>T;502A>C;524A>G;527A>T;555T>G]	ENSP00000516616.1:p.[Arg38Gln;Phe60=;Gln94His;Ile121Met;Ser12...
ENST00000376809.10:c.[113G>A;180C>T;282G>C;363A>G;385T>C;397T>C;413G>A;448C>T;502A>C;524A>G;527A>T;555T>G] MANE Select	ENSP00000366005.5:p.[Arg38Gln;Phe60=;Gln94His;Ile121Met;Ser12...
ENST00000638375.1:c.[113G>A;180C>T;282G>C;363A>G;385T>C;397T>C;413G>A;448C>T;502A>C;524A>G;527A>T;555T>G]	ENSP00000492789.1:p.[Arg38Gln;Phe60=;Gln94His;Ile121Met;Ser12...
ENST00000376802.2:c.[113G>A;180C>T;282G>C;363A>G;385T>C;397T>C;413G>A;448C>T;502A>C;524A>G;527A>T;555T>G]	ENSP00000365998.2:p.[Arg38Gln;Phe60=;Gln94His;Ile121Met;Ser12...
ENST00000376806.9:c.[113G>A;180C>T;282G>C;363A>G;385T>C;397T>C;413G>A;448C>T;502A>C;524A>G;527A>T;555T>G]	ENSP00000366002.5:p.[Arg38Gln;Phe60=;Gln94His;Ile121Met;Ser12...
ENST00000376809.9:c.[113G>A;180C>T;282G>C;363A>G;385T>C;397T>C;413G>A;448C>T;502A>C;524A>G;527A>T;555T>G]	ENSP00000366005.5:p.[Arg38Gln;Phe60=;Gln94His;Ile121Met;Ser12...
ENST00000396634.5:c.[113G>A;180C>T;282G>C;363A>G;385T>C;397T>C;413G>A;448C>T;502A>C;524A>G;527A>T;555T>G]	ENSP00000379873.1:p.[Arg38Gln;Phe60=;Gln94His;Ile121Met;Ser12...
ENST00000461903.1:n.[113G>A;180C>T;282G>C;604A>G;626T>C;638T>C;654G>A;689C>T;743A>C;765A>G;768A>T;796T>G]
ENST00000479320.5:n.[113G>A;180C>T;282G>C;604A>G;626T>C;638T>C;654G>A;689C>T;743A>C;765A>G;768A>T;796T>G]
ENST00000495183.5:n.[115G>A;182C>T;284G>C;606A>G;628T>C;640T>C;656G>A;691C>T;745A>C;767A>G;770A>T;798T>G]
ENST00000496081.5:n.[119G>A;177+9C>T;177+111G>C;180A>G;202T>C;214T>C;230G>A;265C>T;319A>C;341A>G;344A>T;372T>G]
NM_002116.7:c.[113G>A;180C>T;282G>C;363A>G;385T>C;397T>C;413G>A;448C>T;502A>C;524A>G;527A>T;555T>G]	NP_002107.3:p.[Arg38Gln;Phe60=;Gln94His;Ile121Met;Ser129Pro;P...
NM_002116.8:c.[113G>A;180C>T;282G>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.[Arg38Gln;Phe60=;Gln94His;Ile121Met;Ser129Pro;P...