Canonical Allele Identifier: CA10605136

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 285509
• ClinVar RCV Id: RCV000289108 ; RCV000796579
• dbSNP Id: rs886043123
• MyVariant Identifiers: chr12:g.52307825T>C (hg19) ; chr12:g.51914041T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51914041T>C , CM000674.2:g.51914041T>C	GRCh38
NC_000012.11:g.52307825T>C , CM000674.1:g.52307825T>C	GRCh37
NC_000012.10:g.50594092T>C	NCBI36
NG_009549.1:g.11624T>C , LRG_543:g.11624T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.356-398T>C	ENSP00000446724.2:n.356-398T>C
ENST00000551576.6:c.593T>C	ENSP00000455848.2:p.Val198Ala
ENST00000552678.2:c.593T>C	ENSP00000457394.2:p.Val198Ala
ENST00000388922.9:c.593T>C MANE Select	ENSP00000373574.4:p.Val198Ala
ENST00000388922.8:c.593T>C	ENSP00000373574.4:p.Val198Ala
ENST00000419526.6:c.104-398T>C	ENSP00000392492.2:n.104-398T>C
ENST00000547400.5:c.356-398T>C	ENSP00000446724.1:n.356-398T>C
ENST00000550683.5:c.635T>C	ENSP00000447884.1:p.Val212Ala
NM_000020.2:c.593T>C , LRG_543t1:c.593T>C	NP_000011.2:p.Val198Ala
NM_001077401.1:c.593T>C	NP_001070869.1:p.Val198Ala
XM_005269235.2:c.593T>C	XP_005269292.1:p.Val198Ala
XM_011539008.1:c.356-398T>C	XP_011537310.1:n.356-398T>C
XM_024449279.1:c.-165+271T>C	XP_024305047.1:n.-165+271T>C
NM_000020.3:c.593T>C MANE Select	NP_000011.2:p.Val198Ala
NM_001077401.2:c.593T>C	NP_001070869.1:p.Val198Ala