Canonical Allele Identifier: CA236361874

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 1782626
• ClinVar RCV Id: RCV002410659
• dbSNP Id: rs943040923
• gnomAD v3: 12-51913228-A-C
• gnomAD v4: 12-51913228-A-C
• MyVariant Identifiers: chr12:g.52307012A>C (hg19) ; chr12:g.51913228A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51913228A>C , CM000674.2:g.51913228A>C	GRCh38
NC_000012.11:g.52307012A>C , CM000674.1:g.52307012A>C	GRCh37
NC_000012.10:g.50593279A>C	NCBI36
NG_009549.1:g.10811A>C , LRG_543:g.10811A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.233A>C	ENSP00000446724.2:p.Gln78Pro
ENST00000551576.6:c.191A>C	ENSP00000455848.2:p.Gln64Pro
ENST00000552678.2:c.191A>C	ENSP00000457394.2:p.Gln64Pro
ENST00000388922.9:c.191A>C MANE Select	ENSP00000373574.4:p.Gln64Pro
ENST00000388922.8:c.191A>C	ENSP00000373574.4:p.Gln64Pro
ENST00000419526.6:c.103+693A>C	ENSP00000392492.2:n.103+693A>C
ENST00000547400.5:c.233A>C	ENSP00000446724.1:p.Gln78Pro
ENST00000550683.5:c.233A>C	ENSP00000447884.1:p.Gln78Pro
ENST00000551576.5:c.191A>C	ENSP00000455848.1:p.Gln64Pro
NM_000020.2:c.191A>C , LRG_543t1:c.191A>C	NP_000011.2:p.Gln64Pro
NM_001077401.1:c.191A>C	NP_001070869.1:p.Gln64Pro
XM_005269235.2:c.191A>C	XP_005269292.1:p.Gln64Pro
XM_011539008.1:c.233A>C	XP_011537310.1:p.Gln78Pro
NM_000020.3:c.191A>C MANE Select	NP_000011.2:p.Gln64Pro
NM_001077401.2:c.191A>C	NP_001070869.1:p.Gln64Pro