Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.50091472T>C , CM000664.2:g.50091472T>C	GRCh38
NC_000002.11:g.50318610T>C , CM000664.1:g.50318610T>C	GRCh37
NC_000002.10:g.50172114T>C	NCBI36
NG_011878.1:g.946065A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401669.7:c.3569A>G MANE Select	ENSP00000385017.2:p.Lys1190Arg
ENST00000637889.1:n.736A>G
ENST00000637906.1:c.456A>G	ENSP00000490198.1:n.456A>G
ENST00000342183.9:c.464A>G	ENSP00000341184.5:p.Lys155Arg
ENST00000401669.6:c.3569A>G	ENSP00000385017.2:p.Lys1190Arg
ENST00000401710.5:c.464A>G	ENSP00000385580.2:p.Lys155Arg
ENST00000404971.5:c.3689A>G	ENSP00000385142.1:p.Lys1230Arg
ENST00000405472.7:c.3533A>G	ENSP00000434015.2:p.Lys1178Arg
ENST00000406316.6:c.3569A>G	ENSP00000384311.2:p.Lys1190Arg
ENST00000611589.4:c.-269A>G	ENSP00000483634.1:n.-269A>G
ENST00000625672.2:c.3545A>G	ENSP00000485887.1:p.Lys1182Arg
ENST00000628364.2:c.464A>G	ENSP00000485815.1:p.Lys155Arg
ENST00000630543.2:c.3545A>G	ENSP00000486879.1:p.Lys1182Arg
ENST00000635264.1:n.378A>G
NM_001135659.1:c.3689A>G	NP_001129131.1:p.Lys1230Arg
NM_004801.4:c.3569A>G	NP_004792.1:p.Lys1190Arg
NM_138735.2:c.464A>G	NP_620072.1:p.Lys155Arg
XM_005264642.2:c.3590A>G	XP_005264699.1:p.Lys1197Arg
XM_005264643.2:c.3545A>G	XP_005264700.1:p.Lys1182Arg
XM_006712137.2:c.3590A>G	XP_006712200.1:p.Lys1197Arg
XM_006712140.2:c.3590A>G	XP_006712203.1:p.Lys1197Arg
XM_006712141.2:c.3590A>G	XP_006712204.1:p.Lys1197Arg
XM_011533167.1:c.3590A>G	XP_011531469.1:p.Lys1197Arg
XM_011533168.1:c.3587A>G	XP_011531470.1:p.Lys1196Arg
XM_011533169.1:c.3578A>G	XP_011531471.1:p.Lys1193Arg
XM_011533170.1:c.3572A>G	XP_011531472.1:p.Lys1191Arg
XM_011533171.1:c.3569A>G	XP_011531473.1:p.Lys1190Arg
XM_011533172.1:c.3563A>G	XP_011531474.1:p.Lys1188Arg
XM_011533173.1:c.3560A>G	XP_011531475.1:p.Lys1187Arg
XM_011533174.1:c.3545A>G	XP_011531476.1:p.Lys1182Arg
XM_011533175.1:c.3533A>G	XP_011531477.1:p.Lys1178Arg
XM_011533176.1:c.3530A>G	XP_011531478.1:p.Lys1177Arg
XM_011533177.1:c.3590A>G	XP_011531479.1:p.Lys1197Arg
XM_011533178.1:c.3500A>G	XP_011531480.1:p.Lys1167Arg
XM_011533179.1:c.3545A>G	XP_011531481.1:p.Lys1182Arg
XM_011533180.1:c.3590A>G	XP_011531482.1:p.Lys1197Arg
XM_011533181.1:c.2795A>G	XP_011531483.1:p.Lys932Arg
XM_011533182.1:c.2750A>G	XP_011531484.1:p.Lys917Arg
XM_011533183.1:c.2723A>G	XP_011531485.1:p.Lys908Arg
XM_011533184.1:c.2630A>G	XP_011531486.1:p.Lys877Arg
NM_001135659.2:c.3689A>G	NP_001129131.1:p.Lys1230Arg
NM_001330077.1:c.3545A>G	NP_001317006.1:p.Lys1182Arg
NM_001330078.1:c.3569A>G	NP_001317007.1:p.Lys1190Arg
NM_001330082.1:c.3545A>G	NP_001317011.1:p.Lys1182Arg
NM_001330083.1:c.3503A>G	NP_001317012.1:p.Lys1168Arg
NM_001330084.1:c.3503A>G	NP_001317013.1:p.Lys1168Arg
NM_001330085.1:c.3542A>G	NP_001317014.1:p.Lys1181Arg
NM_001330086.1:c.3569A>G	NP_001317015.1:p.Lys1190Arg
NM_001330087.1:c.3458A>G	NP_001317016.1:p.Lys1153Arg
NM_001330088.1:c.3488A>G	NP_001317017.1:p.Lys1163Arg
NM_001330091.1:c.464A>G	NP_001317020.1:p.Lys155Arg
NM_001330092.1:c.464A>G	NP_001317021.1:p.Lys155Arg
NM_001330093.1:c.3566A>G	NP_001317022.1:p.Lys1189Arg
NM_001330094.1:c.3557A>G	NP_001317023.1:p.Lys1186Arg
NM_001330095.1:c.3518A>G	NP_001317024.1:p.Lys1173Arg
NM_001330096.1:c.3458A>G	NP_001317025.1:p.Lys1153Arg
NM_001330097.1:c.464A>G	NP_001317026.1:p.Lys155Arg
NM_004801.5:c.3569A>G	NP_004792.1:p.Lys1190Arg
NM_138735.4:c.464A>G	NP_620072.1:p.Lys155Arg
XM_005264642.4:c.3590A>G	XP_005264699.1:p.Lys1197Arg
XM_006712137.4:c.3590A>G	XP_006712200.1:p.Lys1197Arg
XM_006712140.4:c.3617A>G	XP_006712203.2:p.Lys1206Arg
XM_011533167.3:c.3590A>G	XP_011531469.1:p.Lys1197Arg
XM_011533172.3:c.3563A>G	XP_011531474.1:p.Lys1188Arg
XM_011533175.3:c.3533A>G	XP_011531477.1:p.Lys1178Arg
XM_011533177.3:c.3590A>G	XP_011531479.1:p.Lys1197Arg
XM_011533178.3:c.3500A>G	XP_011531480.1:p.Lys1167Arg
XM_011533180.3:c.3590A>G	XP_011531482.1:p.Lys1197Arg
XM_011533183.2:c.2723A>G	XP_011531485.1:p.Lys908Arg
XM_017005303.2:c.3617A>G	XP_016860792.1:p.Lys1206Arg
XM_017005304.2:c.3614A>G	XP_016860793.1:p.Lys1205Arg
XM_017005305.2:c.3617A>G	XP_016860794.1:p.Lys1206Arg
XM_017005306.2:c.3605A>G	XP_016860795.1:p.Lys1202Arg
XM_017005307.2:c.3599A>G	XP_016860796.1:p.Lys1200Arg
XM_017005308.2:c.3596A>G	XP_016860797.1:p.Lys1199Arg
XM_017005309.2:c.3590A>G	XP_016860798.1:p.Lys1197Arg
XM_017005310.2:c.3587A>G	XP_016860799.1:p.Lys1196Arg
XM_017005311.2:c.3572A>G	XP_016860800.1:p.Lys1191Arg
XM_017005314.2:c.3557A>G	XP_016860803.1:p.Lys1186Arg
XM_017005315.2:c.3563A>G	XP_016860804.1:p.Lys1188Arg
XM_017005316.2:c.3554A>G	XP_016860805.1:p.Lys1185Arg
XM_017005318.2:c.3545A>G	XP_016860807.1:p.Lys1182Arg
XM_017005320.2:c.3542A>G	XP_016860809.1:p.Lys1181Arg
XM_017005321.2:c.3617A>G	XP_016860810.1:p.Lys1206Arg
XM_017005322.2:c.3617A>G	XP_016860811.1:p.Lys1206Arg
XM_017005324.2:c.3563A>G	XP_016860813.1:p.Lys1188Arg
XM_017005325.2:c.3563A>G	XP_016860814.1:p.Lys1188Arg
XM_017005326.2:c.3551A>G	XP_016860815.1:p.Lys1184Arg
XM_017005327.2:c.3545A>G	XP_016860816.1:p.Lys1182Arg
XM_017005329.2:c.3617A>G	XP_016860818.1:p.Lys1206Arg
XM_017005334.2:c.2657A>G	XP_016860823.1:p.Lys886Arg
NM_001330078.2:c.3569A>G MANE Select	NP_001317007.1:p.Lys1190Arg
NM_001135659.3:c.3689A>G	NP_001129131.1:p.Lys1230Arg
NM_001330077.2:c.3545A>G	NP_001317006.1:p.Lys1182Arg
NM_001330082.2:c.3545A>G	NP_001317011.1:p.Lys1182Arg
NM_001330083.2:c.3503A>G	NP_001317012.1:p.Lys1168Arg
NM_001330084.2:c.3503A>G	NP_001317013.1:p.Lys1168Arg
NM_001330085.2:c.3542A>G	NP_001317014.1:p.Lys1181Arg
NM_001330086.2:c.3569A>G	NP_001317015.1:p.Lys1190Arg
NM_001330087.2:c.3458A>G	NP_001317016.1:p.Lys1153Arg
NM_001330088.2:c.3488A>G	NP_001317017.1:p.Lys1163Arg
NM_001330091.2:c.464A>G	NP_001317020.1:p.Lys155Arg
NM_001330092.2:c.464A>G	NP_001317021.1:p.Lys155Arg
NM_001330093.2:c.3566A>G	NP_001317022.1:p.Lys1189Arg
NM_001330094.2:c.3557A>G	NP_001317023.1:p.Lys1186Arg
NM_001330095.2:c.3518A>G	NP_001317024.1:p.Lys1173Arg
NM_001330096.2:c.3458A>G	NP_001317025.1:p.Lys1153Arg
NM_001330097.2:c.464A>G	NP_001317026.1:p.Lys155Arg
NM_004801.6:c.3569A>G	NP_004792.1:p.Lys1190Arg
NM_138735.5:c.464A>G	NP_620072.1:p.Lys155Arg

Linked Data

Genomic Alleles

Transcript Alleles