Canonical Allele Identifier: CA384905628
Gene: ACVRL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51920810T>C , CM000674.2:g.51920810T>C GRCh38
NC_000012.11:g.52314594T>C , CM000674.1:g.52314594T>C GRCh37
NC_000012.10:g.50600861T>C NCBI36
NG_009549.1:g.18393T>C , LRG_543:g.18393T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000547400.6:c.1159T>C ENSP00000446724.2:p.Ser387Pro
ENST00000551576.6:c.1429T>C ENSP00000455848.2:p.Ser477Pro
ENST00000388922.9:c.1429T>C MANE Select ENSP00000373574.4:p.Ser477Pro
ENST00000388922.8:c.1429T>C ENSP00000373574.4:p.Ser477Pro
ENST00000419526.6:c.907T>C ENSP00000392492.2:p.Ser303Pro
ENST00000550683.5:c.1471T>C ENSP00000447884.1:p.Ser491Pro
NM_000020.2:c.1429T>C , LRG_543t1:c.1429T>C NP_000011.2:p.Ser477Pro
NM_001077401.1:c.1429T>C NP_001070869.1:p.Ser477Pro
XM_005269235.2:c.1429T>C XP_005269292.1:p.Ser477Pro
XM_011539008.1:c.1159T>C XP_011537310.1:p.Ser387Pro
XM_024449279.1:c.640T>C XP_024305047.1:p.Ser214Pro
NM_000020.3:c.1429T>C MANE Select NP_000011.2:p.Ser477Pro
NM_001077401.2:c.1429T>C NP_001070869.1:p.Ser477Pro