Canonical Allele Identifier: CA384899252
Gene: ACVRL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51913753G>T , CM000674.2:g.51913753G>T GRCh38
NC_000012.11:g.52307537G>T , CM000674.1:g.52307537G>T GRCh37
NC_000012.10:g.50593804G>T NCBI36
NG_009549.1:g.11336G>T , LRG_543:g.11336G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000547400.6:c.355+403G>T ENSP00000446724.2:n.355+403G>T
ENST00000551576.6:c.508G>T ENSP00000455848.2:p.Gly170Cys
ENST00000552678.2:c.508G>T ENSP00000457394.2:p.Gly170Cys
ENST00000388922.9:c.508G>T MANE Select ENSP00000373574.4:p.Gly170Cys
ENST00000388922.8:c.508G>T ENSP00000373574.4:p.Gly170Cys
ENST00000419526.6:c.104-686G>T ENSP00000392492.2:n.104-686G>T
ENST00000547400.5:c.355+403G>T ENSP00000446724.1:n.355+403G>T
ENST00000550683.5:c.550G>T ENSP00000447884.1:p.Gly184Cys
NM_000020.2:c.508G>T , LRG_543t1:c.508G>T NP_000011.2:p.Gly170Cys
NM_001077401.1:c.508G>T NP_001070869.1:p.Gly170Cys
XM_005269235.2:c.508G>T XP_005269292.1:p.Gly170Cys
XM_011539008.1:c.355+403G>T XP_011537310.1:n.355+403G>T
XM_024449279.1:c.-182G>T XP_024305047.1:n.-182G>T
NM_000020.3:c.508G>T MANE Select NP_000011.2:p.Gly170Cys
NM_001077401.2:c.508G>T NP_001070869.1:p.Gly170Cys