Canonical Allele Identifier: CA384897557

Gene: ACVRL1

Linked Data

• dbSNP Id: rs781586192
• gnomAD v2: 12-52306932-G-C
• gnomAD v4: 12-51913148-G-C
• MyVariant Identifiers: chr12:g.52306932G>C (hg19) ; chr12:g.51913148G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51913148G>C , CM000674.2:g.51913148G>C	GRCh38
NC_000012.11:g.52306932G>C , CM000674.1:g.52306932G>C	GRCh37
NC_000012.10:g.50593199G>C	NCBI36
NG_009549.1:g.10731G>C , LRG_543:g.10731G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.153G>C	ENSP00000446724.2:p.Glu51Asp
ENST00000551576.6:c.111G>C	ENSP00000455848.2:p.Glu37Asp
ENST00000552678.2:c.111G>C	ENSP00000457394.2:p.Glu37Asp
ENST00000388922.9:c.111G>C MANE Select	ENSP00000373574.4:p.Glu37Asp
ENST00000388922.8:c.111G>C	ENSP00000373574.4:p.Glu37Asp
ENST00000419526.6:c.103+613G>C	ENSP00000392492.2:n.103+613G>C
ENST00000547400.5:c.153G>C	ENSP00000446724.1:p.Glu51Asp
ENST00000550683.5:c.153G>C	ENSP00000447884.1:p.Glu51Asp
ENST00000551576.5:c.111G>C	ENSP00000455848.1:p.Glu37Asp
NM_000020.2:c.111G>C , LRG_543t1:c.111G>C	NP_000011.2:p.Glu37Asp
NM_001077401.1:c.111G>C	NP_001070869.1:p.Glu37Asp
XM_005269235.2:c.111G>C	XP_005269292.1:p.Glu37Asp
XM_011539008.1:c.153G>C	XP_011537310.1:p.Glu51Asp
NM_000020.3:c.111G>C MANE Select	NP_000011.2:p.Glu37Asp
NM_001077401.2:c.111G>C	NP_001070869.1:p.Glu37Asp