Canonical Allele Identifier: CA384897851

Gene: ACVRL1

Linked Data

• dbSNP Id: rs1488803418
• gnomAD v2: 12-52307004-G-T
• gnomAD v4: 12-51913220-G-T
• MyVariant Identifiers: chr12:g.52307004G>T (hg19) ; chr12:g.51913220G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51913220G>T , CM000674.2:g.51913220G>T	GRCh38
NC_000012.11:g.52307004G>T , CM000674.1:g.52307004G>T	GRCh37
NC_000012.10:g.50593271G>T	NCBI36
NG_009549.1:g.10803G>T , LRG_543:g.10803G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.225G>T	ENSP00000446724.2:p.Arg75Ser
ENST00000551576.6:c.183G>T	ENSP00000455848.2:p.Arg61Ser
ENST00000552678.2:c.183G>T	ENSP00000457394.2:p.Arg61Ser
ENST00000388922.9:c.183G>T MANE Select	ENSP00000373574.4:p.Arg61Ser
ENST00000388922.8:c.183G>T	ENSP00000373574.4:p.Arg61Ser
ENST00000419526.6:c.103+685G>T	ENSP00000392492.2:n.103+685G>T
ENST00000547400.5:c.225G>T	ENSP00000446724.1:p.Arg75Ser
ENST00000550683.5:c.225G>T	ENSP00000447884.1:p.Arg75Ser
ENST00000551576.5:c.183G>T	ENSP00000455848.1:p.Arg61Ser
NM_000020.2:c.183G>T , LRG_543t1:c.183G>T	NP_000011.2:p.Arg61Ser
NM_001077401.1:c.183G>T	NP_001070869.1:p.Arg61Ser
XM_005269235.2:c.183G>T	XP_005269292.1:p.Arg61Ser
XM_011539008.1:c.225G>T	XP_011537310.1:p.Arg75Ser
NM_000020.3:c.183G>T MANE Select	NP_000011.2:p.Arg61Ser
NM_001077401.2:c.183G>T	NP_001070869.1:p.Arg61Ser