Canonical Allele Identifier: CA119410

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 8255
• ClinVar RCV Id: RCV000008744 ; RCV002345234
• dbSNP Id: rs121909289
• MyVariant Identifiers: chr12:g.52309967G>C (hg19) ; chr12:g.51916183G>C (hg38)
• PubMed: PMID:14684682

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51916183G>C , CM000674.2:g.51916183G>C	GRCh38
NC_000012.11:g.52309967G>C , CM000674.1:g.52309967G>C	GRCh37
NC_000012.10:g.50596234G>C	NCBI36
NG_009549.1:g.13766G>C , LRG_543:g.13766G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.926G>C	ENSP00000446724.2:p.Trp309Ser
ENST00000551576.6:c.1196G>C	ENSP00000455848.2:p.Trp399Ser
ENST00000552678.2:c.1196G>C	ENSP00000457394.2:p.Trp399Ser
ENST00000388922.9:c.1196G>C MANE Select	ENSP00000373574.4:p.Trp399Ser
ENST00000388922.8:c.1196G>C	ENSP00000373574.4:p.Trp399Ser
ENST00000419526.6:c.674G>C	ENSP00000392492.2:p.Trp225Ser
ENST00000547632.1:n.471G>C
ENST00000550683.5:c.1238G>C	ENSP00000447884.1:p.Trp413Ser
ENST00000552678.1:c.201G>C
NM_000020.2:c.1196G>C , LRG_543t1:c.1196G>C	NP_000011.2:p.Trp399Ser
NM_001077401.1:c.1196G>C	NP_001070869.1:p.Trp399Ser
XM_005269235.2:c.1196G>C	XP_005269292.1:p.Trp399Ser
XM_011539008.1:c.926G>C	XP_011537310.1:p.Trp309Ser
XM_024449279.1:c.407G>C	XP_024305047.1:p.Trp136Ser
NM_000020.3:c.1196G>C MANE Select	NP_000011.2:p.Trp399Ser
NM_001077401.2:c.1196G>C	NP_001070869.1:p.Trp399Ser