Canonical Allele Identifier: CA384901046

Gene: ACVRL1

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51915377G>A , CM000674.2:g.51915377G>A	GRCh38
NC_000012.11:g.52309161G>A , CM000674.1:g.52309161G>A	GRCh37
NC_000012.10:g.50595428G>A	NCBI36
NG_009549.1:g.12960G>A , LRG_543:g.12960G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.655G>A	ENSP00000446724.2:p.Gly219Ser
ENST00000551576.6:c.925G>A	ENSP00000455848.2:p.Gly309Ser
ENST00000552678.2:c.925G>A	ENSP00000457394.2:p.Gly309Ser
ENST00000388922.9:c.925G>A MANE Select	ENSP00000373574.4:p.Gly309Ser
ENST00000388922.8:c.925G>A	ENSP00000373574.4:p.Gly309Ser
ENST00000419526.6:c.403G>A	ENSP00000392492.2:p.Gly135Ser
ENST00000550683.5:c.967G>A	ENSP00000447884.1:p.Gly323Ser
NM_000020.2:c.925G>A , LRG_543t1:c.925G>A	NP_000011.2:p.Gly309Ser
NM_001077401.1:c.925G>A	NP_001070869.1:p.Gly309Ser
XM_005269235.2:c.925G>A	XP_005269292.1:p.Gly309Ser
XM_011539008.1:c.655G>A	XP_011537310.1:p.Gly219Ser
XM_024449279.1:c.136G>A	XP_024305047.1:p.Gly46Ser
NM_000020.3:c.925G>A MANE Select	NP_000011.2:p.Gly309Ser
NM_001077401.2:c.925G>A	NP_001070869.1:p.Gly309Ser