Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.50091433G>C , CM000664.2:g.50091433G>C	GRCh38
NC_000002.11:g.50318571G>C , CM000664.1:g.50318571G>C	GRCh37
NC_000002.10:g.50172075G>C	NCBI36
NG_011878.1:g.946104C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401669.7:c.3608C>G MANE Select	ENSP00000385017.2:p.Ser1203Cys
ENST00000637889.1:n.775C>G
ENST00000637906.1:c.495C>G	ENSP00000490198.1:n.495C>G
ENST00000342183.9:c.503C>G	ENSP00000341184.5:p.Ser168Cys
ENST00000401669.6:c.3608C>G	ENSP00000385017.2:p.Ser1203Cys
ENST00000401710.5:c.503C>G	ENSP00000385580.2:p.Ser168Cys
ENST00000404971.5:c.3728C>G	ENSP00000385142.1:p.Ser1243Cys
ENST00000405472.7:c.3572C>G	ENSP00000434015.2:p.Ser1191Cys
ENST00000406316.6:c.3608C>G	ENSP00000384311.2:p.Ser1203Cys
ENST00000611589.4:c.-230C>G	ENSP00000483634.1:n.-230C>G
ENST00000625672.2:c.3584C>G	ENSP00000485887.1:p.Ser1195Cys
ENST00000628364.2:c.503C>G	ENSP00000485815.1:p.Ser168Cys
ENST00000630543.2:c.3584C>G	ENSP00000486879.1:p.Ser1195Cys
ENST00000635264.1:n.417C>G
NM_001135659.1:c.3728C>G	NP_001129131.1:p.Ser1243Cys
NM_004801.4:c.3608C>G	NP_004792.1:p.Ser1203Cys
NM_138735.2:c.503C>G	NP_620072.1:p.Ser168Cys
XM_005264642.2:c.3629C>G	XP_005264699.1:p.Ser1210Cys
XM_005264643.2:c.3584C>G	XP_005264700.1:p.Ser1195Cys
XM_006712137.2:c.3629C>G	XP_006712200.1:p.Ser1210Cys
XM_006712140.2:c.3629C>G	XP_006712203.1:p.Ser1210Cys
XM_006712141.2:c.3629C>G	XP_006712204.1:p.Ser1210Cys
XM_011533167.1:c.3629C>G	XP_011531469.1:p.Ser1210Cys
XM_011533168.1:c.3626C>G	XP_011531470.1:p.Ser1209Cys
XM_011533169.1:c.3617C>G	XP_011531471.1:p.Ser1206Cys
XM_011533170.1:c.3611C>G	XP_011531472.1:p.Ser1204Cys
XM_011533171.1:c.3608C>G	XP_011531473.1:p.Ser1203Cys
XM_011533172.1:c.3602C>G	XP_011531474.1:p.Ser1201Cys
XM_011533173.1:c.3599C>G	XP_011531475.1:p.Ser1200Cys
XM_011533174.1:c.3584C>G	XP_011531476.1:p.Ser1195Cys
XM_011533175.1:c.3572C>G	XP_011531477.1:p.Ser1191Cys
XM_011533176.1:c.3569C>G	XP_011531478.1:p.Ser1190Cys
XM_011533177.1:c.3629C>G	XP_011531479.1:p.Ser1210Cys
XM_011533178.1:c.3539C>G	XP_011531480.1:p.Ser1180Cys
XM_011533179.1:c.3584C>G	XP_011531481.1:p.Ser1195Cys
XM_011533180.1:c.3629C>G	XP_011531482.1:p.Ser1210Cys
XM_011533181.1:c.2834C>G	XP_011531483.1:p.Ser945Cys
XM_011533182.1:c.2789C>G	XP_011531484.1:p.Ser930Cys
XM_011533183.1:c.2762C>G	XP_011531485.1:p.Ser921Cys
XM_011533184.1:c.2669C>G	XP_011531486.1:p.Ser890Cys
NM_001135659.2:c.3728C>G	NP_001129131.1:p.Ser1243Cys
NM_001330077.1:c.3584C>G	NP_001317006.1:p.Ser1195Cys
NM_001330078.1:c.3608C>G	NP_001317007.1:p.Ser1203Cys
NM_001330082.1:c.3584C>G	NP_001317011.1:p.Ser1195Cys
NM_001330083.1:c.3542C>G	NP_001317012.1:p.Ser1181Cys
NM_001330084.1:c.3542C>G	NP_001317013.1:p.Ser1181Cys
NM_001330085.1:c.3581C>G	NP_001317014.1:p.Ser1194Cys
NM_001330086.1:c.3608C>G	NP_001317015.1:p.Ser1203Cys
NM_001330087.1:c.3497C>G	NP_001317016.1:p.Ser1166Cys
NM_001330088.1:c.3527C>G	NP_001317017.1:p.Ser1176Cys
NM_001330091.1:c.503C>G	NP_001317020.1:p.Ser168Cys
NM_001330092.1:c.503C>G	NP_001317021.1:p.Ser168Cys
NM_001330093.1:c.3605C>G	NP_001317022.1:p.Ser1202Cys
NM_001330094.1:c.3596C>G	NP_001317023.1:p.Ser1199Cys
NM_001330095.1:c.3557C>G	NP_001317024.1:p.Ser1186Cys
NM_001330096.1:c.3497C>G	NP_001317025.1:p.Ser1166Cys
NM_001330097.1:c.503C>G	NP_001317026.1:p.Ser168Cys
NM_004801.5:c.3608C>G	NP_004792.1:p.Ser1203Cys
NM_138735.4:c.503C>G	NP_620072.1:p.Ser168Cys
XM_005264642.4:c.3629C>G	XP_005264699.1:p.Ser1210Cys
XM_006712137.4:c.3629C>G	XP_006712200.1:p.Ser1210Cys
XM_006712140.4:c.3656C>G	XP_006712203.2:p.Ser1219Cys
XM_011533167.3:c.3629C>G	XP_011531469.1:p.Ser1210Cys
XM_011533172.3:c.3602C>G	XP_011531474.1:p.Ser1201Cys
XM_011533175.3:c.3572C>G	XP_011531477.1:p.Ser1191Cys
XM_011533177.3:c.3629C>G	XP_011531479.1:p.Ser1210Cys
XM_011533178.3:c.3539C>G	XP_011531480.1:p.Ser1180Cys
XM_011533180.3:c.3629C>G	XP_011531482.1:p.Ser1210Cys
XM_011533183.2:c.2762C>G	XP_011531485.1:p.Ser921Cys
XM_017005303.2:c.3656C>G	XP_016860792.1:p.Ser1219Cys
XM_017005304.2:c.3653C>G	XP_016860793.1:p.Ser1218Cys
XM_017005305.2:c.3656C>G	XP_016860794.1:p.Ser1219Cys
XM_017005306.2:c.3644C>G	XP_016860795.1:p.Ser1215Cys
XM_017005307.2:c.3638C>G	XP_016860796.1:p.Ser1213Cys
XM_017005308.2:c.3635C>G	XP_016860797.1:p.Ser1212Cys
XM_017005309.2:c.3629C>G	XP_016860798.1:p.Ser1210Cys
XM_017005310.2:c.3626C>G	XP_016860799.1:p.Ser1209Cys
XM_017005311.2:c.3611C>G	XP_016860800.1:p.Ser1204Cys
XM_017005314.2:c.3596C>G	XP_016860803.1:p.Ser1199Cys
XM_017005315.2:c.3602C>G	XP_016860804.1:p.Ser1201Cys
XM_017005316.2:c.3593C>G	XP_016860805.1:p.Ser1198Cys
XM_017005318.2:c.3584C>G	XP_016860807.1:p.Ser1195Cys
XM_017005320.2:c.3581C>G	XP_016860809.1:p.Ser1194Cys
XM_017005321.2:c.3656C>G	XP_016860810.1:p.Ser1219Cys
XM_017005322.2:c.3656C>G	XP_016860811.1:p.Ser1219Cys
XM_017005324.2:c.3602C>G	XP_016860813.1:p.Ser1201Cys
XM_017005325.2:c.3602C>G	XP_016860814.1:p.Ser1201Cys
XM_017005326.2:c.3590C>G	XP_016860815.1:p.Ser1197Cys
XM_017005327.2:c.3584C>G	XP_016860816.1:p.Ser1195Cys
XM_017005329.2:c.3656C>G	XP_016860818.1:p.Ser1219Cys
XM_017005334.2:c.2696C>G	XP_016860823.1:p.Ser899Cys
NM_001330078.2:c.3608C>G MANE Select	NP_001317007.1:p.Ser1203Cys
NM_001135659.3:c.3728C>G	NP_001129131.1:p.Ser1243Cys
NM_001330077.2:c.3584C>G	NP_001317006.1:p.Ser1195Cys
NM_001330082.2:c.3584C>G	NP_001317011.1:p.Ser1195Cys
NM_001330083.2:c.3542C>G	NP_001317012.1:p.Ser1181Cys
NM_001330084.2:c.3542C>G	NP_001317013.1:p.Ser1181Cys
NM_001330085.2:c.3581C>G	NP_001317014.1:p.Ser1194Cys
NM_001330086.2:c.3608C>G	NP_001317015.1:p.Ser1203Cys
NM_001330087.2:c.3497C>G	NP_001317016.1:p.Ser1166Cys
NM_001330088.2:c.3527C>G	NP_001317017.1:p.Ser1176Cys
NM_001330091.2:c.503C>G	NP_001317020.1:p.Ser168Cys
NM_001330092.2:c.503C>G	NP_001317021.1:p.Ser168Cys
NM_001330093.2:c.3605C>G	NP_001317022.1:p.Ser1202Cys
NM_001330094.2:c.3596C>G	NP_001317023.1:p.Ser1199Cys
NM_001330095.2:c.3557C>G	NP_001317024.1:p.Ser1186Cys
NM_001330096.2:c.3497C>G	NP_001317025.1:p.Ser1166Cys
NM_001330097.2:c.503C>G	NP_001317026.1:p.Ser168Cys
NM_004801.6:c.3608C>G	NP_004792.1:p.Ser1203Cys
NM_138735.5:c.503C>G	NP_620072.1:p.Ser168Cys

Linked Data

Genomic Alleles

Transcript Alleles