Canonical Allele Identifier: CA384900555

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 533346
• ClinVar RCV Id: RCV000640439 ; RCV001756065 ; RCV002449006
• dbSNP Id: rs768643771
• MyVariant Identifiers: chr12:g.52309087C>T (hg19) ; chr12:g.51915303C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51915303C>T , CM000674.2:g.51915303C>T	GRCh38
NC_000012.11:g.52309087C>T , CM000674.1:g.52309087C>T	GRCh37
NC_000012.10:g.50595354C>T	NCBI36
NG_009549.1:g.12886C>T , LRG_543:g.12886C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.581C>T	ENSP00000446724.2:p.Ser194Phe
ENST00000551576.6:c.851C>T	ENSP00000455848.2:p.Ser284Phe
ENST00000552678.2:c.851C>T	ENSP00000457394.2:p.Ser284Phe
ENST00000388922.9:c.851C>T MANE Select	ENSP00000373574.4:p.Ser284Phe
ENST00000388922.8:c.851C>T	ENSP00000373574.4:p.Ser284Phe
ENST00000419526.6:c.329C>T	ENSP00000392492.2:p.Ser110Phe
ENST00000550683.5:c.893C>T	ENSP00000447884.1:p.Ser298Phe
NM_000020.2:c.851C>T , LRG_543t1:c.851C>T	NP_000011.2:p.Ser284Phe
NM_001077401.1:c.851C>T	NP_001070869.1:p.Ser284Phe
XM_005269235.2:c.851C>T	XP_005269292.1:p.Ser284Phe
XM_011539008.1:c.581C>T	XP_011537310.1:p.Ser194Phe
XM_024449279.1:c.62C>T	XP_024305047.1:p.Ser21Phe
NM_000020.3:c.851C>T MANE Select	NP_000011.2:p.Ser284Phe
NM_001077401.2:c.851C>T	NP_001070869.1:p.Ser284Phe