Canonical Allele Identifier: CA6573036

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 1110178
• ClinVar RCV Id: RCV001436313 ; RCV003160746
• dbSNP Id: rs368437392
• ExAC: 12:52309268 T / C
• gnomAD v2: 12-52309268-T-C
• gnomAD v4: 12-51915484-T-C
• MyVariant Identifiers: chr12:g.52309268T>C (hg19) ; chr12:g.51915484T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51915484T>C , CM000674.2:g.51915484T>C	GRCh38
NC_000012.11:g.52309268T>C , CM000674.1:g.52309268T>C	GRCh37
NC_000012.10:g.50595535T>C	NCBI36
NG_009549.1:g.13067T>C , LRG_543:g.13067T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.762T>C	ENSP00000446724.2:p.Cys254=
ENST00000551576.6:c.1032T>C	ENSP00000455848.2:p.Cys344=
ENST00000552678.2:c.1032T>C	ENSP00000457394.2:p.Cys344=
ENST00000388922.9:c.1032T>C MANE Select	ENSP00000373574.4:p.Cys344=
ENST00000388922.8:c.1032T>C	ENSP00000373574.4:p.Cys344=
ENST00000419526.6:c.510T>C	ENSP00000392492.2:p.Cys170=
ENST00000550683.5:c.1074T>C	ENSP00000447884.1:p.Cys358=
ENST00000552678.1:c.37T>C
NM_000020.2:c.1032T>C , LRG_543t1:c.1032T>C	NP_000011.2:p.Cys344=
NM_001077401.1:c.1032T>C	NP_001070869.1:p.Cys344=
XM_005269235.2:c.1032T>C	XP_005269292.1:p.Cys344=
XM_011539008.1:c.762T>C	XP_011537310.1:p.Cys254=
XM_024449279.1:c.243T>C	XP_024305047.1:p.Cys81=
NM_000020.3:c.1032T>C MANE Select	NP_000011.2:p.Cys344=
NM_001077401.2:c.1032T>C	NP_001070869.1:p.Cys344=