Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45332026A>T , CM000663.2:g.45332026A>T	GRCh38
NC_000001.10:g.45797698A>T , CM000663.1:g.45797698A>T	GRCh37
NC_000001.9:g.45570285A>T	NCBI36
NG_008189.1:g.13445T>A , LRG_220:g.13445T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000412971.6:c.526T>A	ENSP00000410263.2:p.Cys176Ser
ENST00000435155.2:c.943T>A	ENSP00000403655.2:p.Cys315Ser
ENST00000467459.6:c.910T>A	ENSP00000435889.2:p.Cys304Ser
ENST00000483127.2:c.928T>A	ENSP00000436469.2:p.Cys310Ser
ENST00000485271.6:c.910T>A	ENSP00000431264.2:p.Cys304Ser
ENST00000529892.6:c.952T>A	ENSP00000432528.2:p.Cys318Ser
ENST00000533178.6:c.*239T>A	ENSP00000436430.2:n.*239T>A
ENST00000672314.2:c.910T>A	ENSP00000500828.2:p.Cys304Ser
ENST00000710952.2:c.994T>A MANE Plus Clinical	ENSP00000518552.2:p.Cys332Ser
ENST00000672818.3:c.985T>A	ENSP00000500891.1:p.Cys329Ser
ENST00000456914.7:c.910T>A MANE Select	ENSP00000407590.2:p.Cys304Ser
ENST00000671898.1:c.1498T>A	ENSP00000499896.1:p.Cys500Ser
ENST00000672011.1:c.*239T>A	ENSP00000500418.1:n.*239T>A
ENST00000672314.1:c.910T>A	ENSP00000500828.1:p.Cys304Ser
ENST00000672593.1:c.*963T>A	ENSP00000500455.1:n.*963T>A
ENST00000672764.1:c.*239T>A	ENSP00000500886.1:n.*239T>A
ENST00000672818.2:c.985T>A	ENSP00000500891.1:p.Cys329Ser
ENST00000673134.1:c.*607T>A	ENSP00000500526.1:n.*607T>A
ENST00000354383.10:c.913T>A	ENSP00000346354.6:p.Cys305Ser
ENST00000355498.6:c.910T>A	ENSP00000347685.2:p.Cys304Ser
ENST00000372098.7:c.985T>A	ENSP00000361170.3:p.Cys329Ser
ENST00000372104.5:c.910T>A	ENSP00000361176.1:p.Cys304Ser
ENST00000372110.7:c.955T>A	ENSP00000361182.3:p.Cys319Ser
ENST00000372115.7:c.952T>A	ENSP00000361187.3:p.Cys318Ser
ENST00000412971.5:c.526T>A	ENSP00000410263.1:p.Cys176Ser
ENST00000448481.5:c.943T>A	ENSP00000409718.1:p.Cys315Ser
ENST00000450313.5:c.994T>A	ENSP00000408176.1:p.Cys332Ser
ENST00000456914.6:c.910T>A	ENSP00000407590.2:p.Cys304Ser
ENST00000462388.5:n.601T>A
ENST00000466231.1:n.275T>A
ENST00000467459.5:c.304T>A	ENSP00000435889.1:p.Cys102Ser
ENST00000470256.5:c.*239T>A	ENSP00000434985.1:n.*239T>A
ENST00000475516.5:c.*723T>A	ENSP00000433843.1:n.*723T>A
ENST00000481571.5:c.*723T>A	ENSP00000436597.1:n.*723T>A
ENST00000482094.5:n.58T>A
ENST00000488731.6:c.188-470T>A	ENSP00000432330.1:n.188-470T>A
ENST00000528013.6:c.952T>A	ENSP00000433130.2:p.Cys318Ser
ENST00000529892.5:c.174T>A
ENST00000529984.5:c.188-470T>A	ENSP00000437093.1:n.188-470T>A
ENST00000531105.5:c.115+2365T>A	ENSP00000431292.1:n.115+2365T>A
ENST00000533178.5:c.539T>A	ENSP00000436430.1:n.539T>A
NM_001048171.1:c.952T>A	NP_001041636.1:p.Cys318Ser
NM_001048172.1:c.913T>A	NP_001041637.1:p.Cys305Ser
NM_001048173.1:c.910T>A	NP_001041638.1:p.Cys304Ser
NM_001048174.1:c.910T>A	NP_001041639.1:p.Cys304Ser
NM_001128425.1:c.994T>A , LRG_220t1:c.994T>A	NP_001121897.1:p.Cys332Ser
NM_001293190.1:c.955T>A	NP_001280119.1:p.Cys319Ser
NM_001293191.1:c.943T>A	NP_001280120.1:p.Cys315Ser
NM_001293192.1:c.634T>A	NP_001280121.1:p.Cys212Ser
NM_001293195.1:c.910T>A	NP_001280124.1:p.Cys304Ser
NM_001293196.1:c.634T>A	NP_001280125.1:p.Cys212Ser
NM_012222.2:c.985T>A	NP_036354.1:p.Cys329Ser
XM_011541497.1:c.970T>A	XP_011539799.1:p.Cys324Ser
XM_011541498.1:c.952T>A	XP_011539800.1:p.Cys318Ser
XM_011541499.1:c.952T>A	XP_011539801.1:p.Cys318Ser
XM_011541500.1:c.952T>A	XP_011539802.1:p.Cys318Ser
XM_011541501.1:c.952T>A	XP_011539803.1:p.Cys318Ser
XM_011541502.1:c.952T>A	XP_011539804.1:p.Cys318Ser
XM_011541503.1:c.952T>A	XP_011539805.1:p.Cys318Ser
XM_011541504.1:c.943T>A	XP_011539806.1:p.Cys315Ser
XM_011541505.1:c.532T>A	XP_011539807.1:p.Cys178Ser
XM_011541506.1:c.532T>A	XP_011539808.1:p.Cys178Ser
XM_011541507.1:c.523T>A	XP_011539809.1:p.Cys175Ser
XM_011541508.1:c.538T>A	XP_011539810.1:p.Cys180Ser
XR_946658.1:n.1041T>A
NM_001350650.1:c.565T>A	NP_001337579.1:p.Cys189Ser
NM_001350651.1:c.565T>A	NP_001337580.1:p.Cys189Ser
NR_146882.1:n.1168T>A
NR_146883.1:n.982T>A
XM_011541497.3:c.970T>A	XP_011539799.1:p.Cys324Ser
XM_011541500.3:c.952T>A	XP_011539802.1:p.Cys318Ser
XM_011541501.2:c.952T>A	XP_011539803.1:p.Cys318Ser
XM_011541502.2:c.952T>A	XP_011539804.1:p.Cys318Ser
XM_011541503.2:c.952T>A	XP_011539805.1:p.Cys318Ser
XM_011541504.2:c.943T>A	XP_011539806.1:p.Cys315Ser
XM_011541505.2:c.532T>A	XP_011539807.1:p.Cys178Ser
XM_011541506.2:c.532T>A	XP_011539808.1:p.Cys178Ser
XM_017001331.1:c.952T>A	XP_016856820.1:p.Cys318Ser
XM_017001332.1:c.952T>A	XP_016856821.1:p.Cys318Ser
XM_017001333.1:c.952T>A	XP_016856822.1:p.Cys318Ser
XM_017001334.1:c.913T>A	XP_016856823.1:p.Cys305Ser
XM_017001335.1:c.634T>A	XP_016856824.1:p.Cys212Ser
XM_017001336.1:c.565T>A	XP_016856825.1:p.Cys189Ser
XM_017001337.1:c.565T>A	XP_016856826.1:p.Cys189Ser
XM_024447244.1:c.565T>A	XP_024303012.1:p.Cys189Ser
XM_024447245.1:c.565T>A	XP_024303013.1:p.Cys189Ser
XM_024447248.1:c.523T>A	XP_024303016.1:p.Cys175Ser
XM_024447249.1:c.394T>A	XP_024303017.1:p.Cys132Ser
XM_024447250.1:c.394T>A	XP_024303018.1:p.Cys132Ser
XM_024447251.1:c.394T>A	XP_024303019.1:p.Cys132Ser
XR_001737190.1:n.955T>A
XR_001737192.1:n.767T>A
XR_002956643.1:n.947T>A
XR_002956644.1:n.1482T>A
XR_946658.2:n.1055T>A
NM_001048171.2:c.910T>A	NP_001041636.2:p.Cys304Ser
NM_001128425.2:c.994T>A MANE Plus Clinical	NP_001121897.1:p.Cys332Ser
NM_001048172.2:c.913T>A	NP_001041637.1:p.Cys305Ser
NM_001048173.2:c.910T>A	NP_001041638.1:p.Cys304Ser
NM_001048174.2:c.910T>A MANE Select	NP_001041639.1:p.Cys304Ser
NM_001293190.2:c.955T>A	NP_001280119.1:p.Cys319Ser
NM_001293191.2:c.943T>A	NP_001280120.1:p.Cys315Ser
NM_001293192.2:c.634T>A	NP_001280121.1:p.Cys212Ser
NM_001293195.2:c.910T>A	NP_001280124.1:p.Cys304Ser
NM_001293196.2:c.634T>A	NP_001280125.1:p.Cys212Ser
NM_001350650.2:c.565T>A	NP_001337579.1:p.Cys189Ser
NM_001350651.2:c.565T>A	NP_001337580.1:p.Cys189Ser
NM_012222.3:c.985T>A	NP_036354.1:p.Cys329Ser
NR_146882.2:n.1138T>A
NR_146883.2:n.987T>A

Linked Data

Genomic Alleles

Transcript Alleles