Canonical Allele Identifier: CA6573023

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 982491
• ClinVar RCV Id: RCV001262085
• dbSNP Id: rs145300204
• ExAC: 12:52309184 G / C
• gnomAD v2: 12-52309184-G-C
• gnomAD v3: 12-51915400-G-C
• gnomAD v4: 12-51915400-G-C
• MyVariant Identifiers: chr12:g.52309184G>C (hg19) ; chr12:g.51915400G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51915400G>C , CM000674.2:g.51915400G>C	GRCh38
NC_000012.11:g.52309184G>C , CM000674.1:g.52309184G>C	GRCh37
NC_000012.10:g.50595451G>C	NCBI36
NG_009549.1:g.12983G>C , LRG_543:g.12983G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.678G>C	ENSP00000446724.2:p.Glu226Asp
ENST00000551576.6:c.948G>C	ENSP00000455848.2:p.Glu316Asp
ENST00000552678.2:c.948G>C	ENSP00000457394.2:p.Glu316Asp
ENST00000388922.9:c.948G>C MANE Select	ENSP00000373574.4:p.Glu316Asp
ENST00000388922.8:c.948G>C	ENSP00000373574.4:p.Glu316Asp
ENST00000419526.6:c.426G>C	ENSP00000392492.2:p.Glu142Asp
ENST00000550683.5:c.990G>C	ENSP00000447884.1:p.Glu330Asp
NM_000020.2:c.948G>C , LRG_543t1:c.948G>C	NP_000011.2:p.Glu316Asp
NM_001077401.1:c.948G>C	NP_001070869.1:p.Glu316Asp
XM_005269235.2:c.948G>C	XP_005269292.1:p.Glu316Asp
XM_011539008.1:c.678G>C	XP_011537310.1:p.Glu226Asp
XM_024449279.1:c.159G>C	XP_024305047.1:p.Glu53Asp
NM_000020.3:c.948G>C MANE Select	NP_000011.2:p.Glu316Asp
NM_001077401.2:c.948G>C	NP_001070869.1:p.Glu316Asp