Canonical Allele Identifier: CA480063227
Gene: ACVRL1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.52309163C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51915379C>T , CM000674.2:g.51915379C>T GRCh38
NC_000012.11:g.52309163C>T , CM000674.1:g.52309163C>T GRCh37
NC_000012.10:g.50595430C>T NCBI36
NG_009549.1:g.12962C>T , LRG_543:g.12962C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000547400.6:c.657C>T ENSP00000446724.2:p.Gly219=
ENST00000551576.6:c.927C>T ENSP00000455848.2:p.Gly309=
ENST00000552678.2:c.927C>T ENSP00000457394.2:p.Gly309=
ENST00000388922.9:c.927C>T MANE Select ENSP00000373574.4:p.Gly309=
ENST00000388922.8:c.927C>T ENSP00000373574.4:p.Gly309=
ENST00000419526.6:c.405C>T ENSP00000392492.2:p.Gly135=
ENST00000550683.5:c.969C>T ENSP00000447884.1:p.Gly323=
NM_000020.2:c.927C>T , LRG_543t1:c.927C>T NP_000011.2:p.Gly309=
NM_001077401.1:c.927C>T NP_001070869.1:p.Gly309=
XM_005269235.2:c.927C>T XP_005269292.1:p.Gly309=
XM_011539008.1:c.657C>T XP_011537310.1:p.Gly219=
XM_024449279.1:c.138C>T XP_024305047.1:p.Gly46=
NM_000020.3:c.927C>T MANE Select NP_000011.2:p.Gly309=
NM_001077401.2:c.927C>T NP_001070869.1:p.Gly309=