Canonical Allele Identifier: CA384901756

Gene: ACVRL1

Linked Data

• gnomAD v4: 12-51915486-G-C
• MyVariant Identifiers: chr12:g.52309270G>C (hg19) ; chr12:g.51915486G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51915486G>C , CM000674.2:g.51915486G>C	GRCh38
NC_000012.11:g.52309270G>C , CM000674.1:g.52309270G>C	GRCh37
NC_000012.10:g.50595537G>C	NCBI36
NG_009549.1:g.13069G>C , LRG_543:g.13069G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.764G>C	ENSP00000446724.2:p.Cys255Ser
ENST00000551576.6:c.1034G>C	ENSP00000455848.2:p.Cys345Ser
ENST00000552678.2:c.1034G>C	ENSP00000457394.2:p.Cys345Ser
ENST00000388922.9:c.1034G>C MANE Select	ENSP00000373574.4:p.Cys345Ser
ENST00000388922.8:c.1034G>C	ENSP00000373574.4:p.Cys345Ser
ENST00000419526.6:c.512G>C	ENSP00000392492.2:p.Cys171Ser
ENST00000550683.5:c.1076G>C	ENSP00000447884.1:p.Cys359Ser
ENST00000552678.1:c.39G>C
NM_000020.2:c.1034G>C , LRG_543t1:c.1034G>C	NP_000011.2:p.Cys345Ser
NM_001077401.1:c.1034G>C	NP_001070869.1:p.Cys345Ser
XM_005269235.2:c.1034G>C	XP_005269292.1:p.Cys345Ser
XM_011539008.1:c.764G>C	XP_011537310.1:p.Cys255Ser
XM_024449279.1:c.245G>C	XP_024305047.1:p.Cys82Ser
NM_000020.3:c.1034G>C MANE Select	NP_000011.2:p.Cys345Ser
NM_001077401.2:c.1034G>C	NP_001070869.1:p.Cys345Ser