Canonical Allele Identifier: CA6573019

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 1766437
• ClinVar RCV Id: RCV002371478
• dbSNP Id: rs200993884
• ExAC: 12:52309164 C / T
• gnomAD v2: 12-52309164-C-T
• gnomAD v3: 12-51915380-C-T
• gnomAD v4: 12-51915380-C-T
• MyVariant Identifiers: chr12:g.52309164C>T (hg19) ; chr12:g.51915380C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51915380C>T , CM000674.2:g.51915380C>T	GRCh38
NC_000012.11:g.52309164C>T , CM000674.1:g.52309164C>T	GRCh37
NC_000012.10:g.50595431C>T	NCBI36
NG_009549.1:g.12963C>T , LRG_543:g.12963C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.658C>T	ENSP00000446724.2:p.Leu220=
ENST00000551576.6:c.928C>T	ENSP00000455848.2:p.Leu310=
ENST00000552678.2:c.928C>T	ENSP00000457394.2:p.Leu310=
ENST00000388922.9:c.928C>T MANE Select	ENSP00000373574.4:p.Leu310=
ENST00000388922.8:c.928C>T	ENSP00000373574.4:p.Leu310=
ENST00000419526.6:c.406C>T	ENSP00000392492.2:p.Leu136=
ENST00000550683.5:c.970C>T	ENSP00000447884.1:p.Leu324=
NM_000020.2:c.928C>T , LRG_543t1:c.928C>T	NP_000011.2:p.Leu310=
NM_001077401.1:c.928C>T	NP_001070869.1:p.Leu310=
XM_005269235.2:c.928C>T	XP_005269292.1:p.Leu310=
XM_011539008.1:c.658C>T	XP_011537310.1:p.Leu220=
XM_024449279.1:c.139C>T	XP_024305047.1:p.Leu47=
NM_000020.3:c.928C>T MANE Select	NP_000011.2:p.Leu310=
NM_001077401.2:c.928C>T	NP_001070869.1:p.Leu310=