Canonical Allele Identifier: CA6572933

Gene: ACVRL1

Linked Data

• dbSNP Id: rs766243078
• ExAC: 12:52307761 C / A
• gnomAD v3: 12-51913977-C-A
• gnomAD v4: 12-51913977-C-A
• MyVariant Identifiers: chr12:g.52307761C>A (hg19) ; chr12:g.51913977C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51913977C>A , CM000674.2:g.51913977C>A	GRCh38
NC_000012.11:g.52307761C>A , CM000674.1:g.52307761C>A	GRCh37
NC_000012.10:g.50594028C>A	NCBI36
NG_009549.1:g.11560C>A , LRG_543:g.11560C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.356-462C>A	ENSP00000446724.2:n.356-462C>A
ENST00000551576.6:c.529C>A	ENSP00000455848.2:p.Leu177Ile
ENST00000552678.2:c.529C>A	ENSP00000457394.2:p.Leu177Ile
ENST00000388922.9:c.529C>A MANE Select	ENSP00000373574.4:p.Leu177Ile
ENST00000388922.8:c.529C>A	ENSP00000373574.4:p.Leu177Ile
ENST00000419526.6:c.104-462C>A	ENSP00000392492.2:n.104-462C>A
ENST00000547400.5:c.356-462C>A	ENSP00000446724.1:n.356-462C>A
ENST00000550683.5:c.571C>A	ENSP00000447884.1:p.Leu191Ile
NM_000020.2:c.529C>A , LRG_543t1:c.529C>A	NP_000011.2:p.Leu177Ile
NM_001077401.1:c.529C>A	NP_001070869.1:p.Leu177Ile
XM_005269235.2:c.529C>A	XP_005269292.1:p.Leu177Ile
XM_011539008.1:c.356-462C>A	XP_011537310.1:n.356-462C>A
XM_024449279.1:c.-165+207C>A	XP_024305047.1:n.-165+207C>A
NM_000020.3:c.529C>A MANE Select	NP_000011.2:p.Leu177Ile
NM_001077401.2:c.529C>A	NP_001070869.1:p.Leu177Ile