Canonical Allele Identifier: CA605052085

Gene: ACVRL1

Linked Data

• dbSNP Id: rs1261197031
• gnomAD v2: 12-52309772-A-G
• gnomAD v4: 12-51915988-A-G
• MyVariant Identifiers: chr12:g.52309772A>G (hg19) ; chr12:g.51915988A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51915988A>G , CM000674.2:g.51915988A>G	GRCh38
NC_000012.11:g.52309772A>G , CM000674.1:g.52309772A>G	GRCh37
NC_000012.10:g.50596039A>G	NCBI36
NG_009549.1:g.13571A>G , LRG_543:g.13571A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.779-48A>G	ENSP00000446724.2:n.779-48A>G
ENST00000551576.6:c.1049-48A>G	ENSP00000455848.2:n.1049-48A>G
ENST00000552678.2:c.1049-48A>G	ENSP00000457394.2:n.1049-48A>G
ENST00000388922.9:c.1049-48A>G MANE Select	ENSP00000373574.4:n.1049-48A>G
ENST00000388922.8:c.1049-48A>G	ENSP00000373574.4:n.1049-48A>G
ENST00000419526.6:c.527-48A>G	ENSP00000392492.2:n.527-48A>G
ENST00000547632.1:n.276A>G
ENST00000550683.5:c.1091-48A>G	ENSP00000447884.1:n.1091-48A>G
ENST00000552678.1:c.54-48A>G
NM_000020.2:c.1049-48A>G , LRG_543t1:c.1049-48A>G	NP_000011.2:n.1049-48A>G
NM_001077401.1:c.1049-48A>G	NP_001070869.1:n.1049-48A>G
XM_005269235.2:c.1049-48A>G	XP_005269292.1:n.1049-48A>G
XM_011539008.1:c.779-48A>G	XP_011537310.1:n.779-48A>G
XM_024449279.1:c.260-48A>G	XP_024305047.1:n.260-48A>G
NM_000020.3:c.1049-48A>G MANE Select	NP_000011.2:n.1049-48A>G
NM_001077401.2:c.1049-48A>G	NP_001070869.1:n.1049-48A>G