Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45333488A>G , CM000663.2:g.45333488A>G	GRCh38
NC_000001.10:g.45799160A>G , CM000663.1:g.45799160A>G	GRCh37
NC_000001.9:g.45571747A>G	NCBI36
NG_008189.1:g.11983T>C , LRG_220:g.11983T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412971.6:c.37-654T>C	ENSP00000410263.2:n.37-654T>C
ENST00000435155.2:c.222T>C	ENSP00000403655.2:p.Ala74=
ENST00000467459.6:c.189T>C	ENSP00000435889.2:p.Ala63=
ENST00000483127.2:c.207T>C	ENSP00000436469.2:p.Ala69=
ENST00000485271.6:c.189T>C	ENSP00000431264.2:p.Ala63=
ENST00000529892.6:c.231T>C	ENSP00000432528.2:p.Ala77=
ENST00000533178.6:c.116-801T>C	ENSP00000436430.2:n.116-801T>C
ENST00000672314.2:c.189T>C	ENSP00000500828.2:p.Ala63=
ENST00000674679.2:c.*101T>C	ENSP00000501623.2:n.*101T>C
ENST00000710952.2:c.273T>C MANE Plus Clinical	ENSP00000518552.2:p.Ala91=
ENST00000672818.3:c.264T>C	ENSP00000500891.1:p.Ala88=
ENST00000450313.6:c.273T>C	ENSP00000408176.2:p.Ala91=
ENST00000456914.7:c.189T>C MANE Select	ENSP00000407590.2:p.Ala63=
ENST00000461495.6:c.*2T>C	ENSP00000437166.1:n.*2T>C
ENST00000671856.1:n.209T>C
ENST00000671898.1:c.777T>C	ENSP00000499896.1:p.Ala259=
ENST00000672011.1:c.231T>C	ENSP00000500418.1:p.Ala77=
ENST00000672314.1:c.189T>C	ENSP00000500828.1:p.Ala63=
ENST00000672593.1:c.*2T>C	ENSP00000500455.1:n.*2T>C
ENST00000672764.1:c.222T>C	ENSP00000500886.1:p.Ala74=
ENST00000672818.2:c.264T>C	ENSP00000500891.1:p.Ala88=
ENST00000673134.1:c.*2T>C	ENSP00000500526.1:n.*2T>C
ENST00000674679.1:c.217T>C	ENSP00000501623.1:n.217T>C
ENST00000354383.10:c.192T>C	ENSP00000346354.6:p.Ala64=
ENST00000355498.6:c.189T>C	ENSP00000347685.2:p.Ala63=
ENST00000372098.7:c.264T>C	ENSP00000361170.3:p.Ala88=
ENST00000372104.5:c.189T>C	ENSP00000361176.1:p.Ala63=
ENST00000372110.7:c.234T>C	ENSP00000361182.3:p.Ala78=
ENST00000372115.7:c.231T>C	ENSP00000361187.3:p.Ala77=
ENST00000412971.5:c.37-654T>C	ENSP00000410263.1:n.37-654T>C
ENST00000435155.1:c.222T>C	ENSP00000403655.1:p.Ala74=
ENST00000448481.5:c.222T>C	ENSP00000409718.1:p.Ala74=
ENST00000450313.5:c.273T>C	ENSP00000408176.1:p.Ala91=
ENST00000456914.6:c.189T>C	ENSP00000407590.2:p.Ala63=
ENST00000461495.5:c.*2T>C	ENSP00000437166.1:n.*2T>C
ENST00000462387.5:n.336-164T>C
ENST00000467940.5:c.*112T>C	ENSP00000436478.1:n.*112T>C
ENST00000470256.5:c.192T>C	ENSP00000434985.1:p.Ala64=
ENST00000474703.1:n.344T>C
ENST00000475516.5:c.*2T>C	ENSP00000433843.1:n.*2T>C
ENST00000476789.5:n.409T>C
ENST00000479746.6:n.252T>C
ENST00000481139.5:n.328T>C
ENST00000481571.5:c.*2T>C	ENSP00000436597.1:n.*2T>C
ENST00000483127.1:c.207T>C	ENSP00000436469.1:p.Ala69=
ENST00000483642.5:n.370T>C
ENST00000485484.5:n.239T>C
ENST00000488731.6:c.116-654T>C	ENSP00000432330.1:n.116-654T>C
ENST00000492494.5:n.252T>C
ENST00000525160.5:c.158-164T>C	ENSP00000431568.1:n.158-164T>C
ENST00000528013.6:c.231T>C	ENSP00000433130.2:p.Ala77=
ENST00000529984.5:c.116-654T>C	ENSP00000437093.1:n.116-654T>C
ENST00000531105.5:c.115+903T>C	ENSP00000431292.1:n.115+903T>C
ENST00000533178.5:c.122-801T>C	ENSP00000436430.1:n.122-801T>C
NM_001048171.1:c.231T>C	NP_001041636.1:p.Ala77=
NM_001048172.1:c.192T>C	NP_001041637.1:p.Ala64=
NM_001048173.1:c.189T>C	NP_001041638.1:p.Ala63=
NM_001048174.1:c.189T>C	NP_001041639.1:p.Ala63=
NM_001128425.1:c.273T>C , LRG_220t1:c.273T>C	NP_001121897.1:p.Ala91=
NM_001293190.1:c.234T>C	NP_001280119.1:p.Ala78=
NM_001293191.1:c.222T>C	NP_001280120.1:p.Ala74=
NM_001293192.1:c.-88T>C	NP_001280121.1:n.-88T>C
NM_001293195.1:c.189T>C	NP_001280124.1:p.Ala63=
NM_001293196.1:c.-88T>C	NP_001280125.1:n.-88T>C
NM_012222.2:c.264T>C	NP_036354.1:p.Ala88=
XM_011541497.1:c.249T>C	XP_011539799.1:p.Ala83=
XM_011541498.1:c.231T>C	XP_011539800.1:p.Ala77=
XM_011541499.1:c.231T>C	XP_011539801.1:p.Ala77=
XM_011541500.1:c.231T>C	XP_011539802.1:p.Ala77=
XM_011541501.1:c.231T>C	XP_011539803.1:p.Ala77=
XM_011541502.1:c.231T>C	XP_011539804.1:p.Ala77=
XM_011541503.1:c.273T>C	XP_011539805.1:p.Ala91=
XM_011541504.1:c.222T>C	XP_011539806.1:p.Ala74=
XM_011541505.1:c.43-654T>C	XP_011539807.1:n.43-654T>C
XM_011541506.1:c.43-654T>C	XP_011539808.1:n.43-654T>C
XR_946658.1:n.320T>C
NM_001350650.1:c.-83T>C	NP_001337579.1:n.-83T>C
NM_001350651.1:c.-83T>C	NP_001337580.1:n.-83T>C
NR_146882.1:n.447T>C
NR_146883.1:n.335T>C
XM_011541497.3:c.249T>C	XP_011539799.1:p.Ala83=
XM_011541500.3:c.231T>C	XP_011539802.1:p.Ala77=
XM_011541501.2:c.231T>C	XP_011539803.1:p.Ala77=
XM_011541502.2:c.231T>C	XP_011539804.1:p.Ala77=
XM_011541503.2:c.273T>C	XP_011539805.1:p.Ala91=
XM_011541504.2:c.222T>C	XP_011539806.1:p.Ala74=
XM_011541505.2:c.43-654T>C	XP_011539807.1:n.43-654T>C
XM_011541506.2:c.43-654T>C	XP_011539808.1:n.43-654T>C
XM_017001331.1:c.231T>C	XP_016856820.1:p.Ala77=
XM_017001332.1:c.231T>C	XP_016856821.1:p.Ala77=
XM_017001333.1:c.231T>C	XP_016856822.1:p.Ala77=
XM_017001334.1:c.192T>C	XP_016856823.1:p.Ala64=
XM_017001335.1:c.-88T>C	XP_016856824.1:n.-88T>C
XM_017001336.1:c.-83T>C	XP_016856825.1:n.-83T>C
XM_017001337.1:c.-83T>C	XP_016856826.1:n.-83T>C
XM_024447244.1:c.-83T>C	XP_024303012.1:n.-83T>C
XM_024447245.1:c.-83T>C	XP_024303013.1:n.-83T>C
XM_024447248.1:c.-83T>C	XP_024303016.1:n.-83T>C
XM_024447249.1:c.-579T>C	XP_024303017.1:n.-579T>C
XM_024447250.1:c.-579T>C	XP_024303018.1:n.-579T>C
XM_024447251.1:c.-337T>C	XP_024303019.1:n.-337T>C
XR_001737190.1:n.234T>C
XR_001737192.1:n.162T>C
XR_002956643.1:n.342T>C
XR_002956644.1:n.427T>C
XR_946658.2:n.334T>C
NM_001048171.2:c.189T>C	NP_001041636.2:p.Ala63=
NM_001128425.2:c.273T>C MANE Plus Clinical	NP_001121897.1:p.Ala91=
NM_001048172.2:c.192T>C	NP_001041637.1:p.Ala64=
NM_001048173.2:c.189T>C	NP_001041638.1:p.Ala63=
NM_001048174.2:c.189T>C MANE Select	NP_001041639.1:p.Ala63=
NM_001293190.2:c.234T>C	NP_001280119.1:p.Ala78=
NM_001293191.2:c.222T>C	NP_001280120.1:p.Ala74=
NM_001293192.2:c.-88T>C	NP_001280121.1:n.-88T>C
NM_001293195.2:c.189T>C	NP_001280124.1:p.Ala63=
NM_001293196.2:c.-88T>C	NP_001280125.1:n.-88T>C
NM_001350650.2:c.-83T>C	NP_001337579.1:n.-83T>C
NM_001350651.2:c.-83T>C	NP_001337580.1:n.-83T>C
NM_012222.3:c.264T>C	NP_036354.1:p.Ala88=
NR_146882.2:n.417T>C
NR_146883.2:n.340T>C

Linked Data

Genomic Alleles

Transcript Alleles