Canonical Allele Identifier: CA384897601

Gene: ACVRL1

Linked Data

• COSMIC: COSM6418904 ; COSM6418905
• MyVariant Identifiers: chr12:g.52306942T>C (hg19) ; chr12:g.51913158T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51913158T>C , CM000674.2:g.51913158T>C	GRCh38
NC_000012.11:g.52306942T>C , CM000674.1:g.52306942T>C	GRCh37
NC_000012.10:g.50593209T>C	NCBI36
NG_009549.1:g.10741T>C , LRG_543:g.10741T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.163T>C	ENSP00000446724.2:p.Cys55Arg
ENST00000551576.6:c.121T>C	ENSP00000455848.2:p.Cys41Arg
ENST00000552678.2:c.121T>C	ENSP00000457394.2:p.Cys41Arg
ENST00000388922.9:c.121T>C MANE Select	ENSP00000373574.4:p.Cys41Arg
ENST00000388922.8:c.121T>C	ENSP00000373574.4:p.Cys41Arg
ENST00000419526.6:c.103+623T>C	ENSP00000392492.2:n.103+623T>C
ENST00000547400.5:c.163T>C	ENSP00000446724.1:p.Cys55Arg
ENST00000550683.5:c.163T>C	ENSP00000447884.1:p.Cys55Arg
ENST00000551576.5:c.121T>C	ENSP00000455848.1:p.Cys41Arg
NM_000020.2:c.121T>C , LRG_543t1:c.121T>C	NP_000011.2:p.Cys41Arg
NM_001077401.1:c.121T>C	NP_001070869.1:p.Cys41Arg
XM_005269235.2:c.121T>C	XP_005269292.1:p.Cys41Arg
XM_011539008.1:c.163T>C	XP_011537310.1:p.Cys55Arg
NM_000020.3:c.121T>C MANE Select	NP_000011.2:p.Cys41Arg
NM_001077401.2:c.121T>C	NP_001070869.1:p.Cys41Arg