Canonical Allele Identifier: CA479816682

Gene: ACVRL1

Linked Data

• dbSNP Id: rs1940956389
• gnomAD v4: 12-51920815-C-G
• MyVariant Identifiers: chr12:g.52314599C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51920815C>G , CM000674.2:g.51920815C>G	GRCh38
NC_000012.11:g.52314599C>G , CM000674.1:g.52314599C>G	GRCh37
NC_000012.10:g.50600866C>G	NCBI36
NG_009549.1:g.18398C>G , LRG_543:g.18398C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.1164C>G	ENSP00000446724.2:p.Ala388=
ENST00000551576.6:c.1434C>G	ENSP00000455848.2:p.Ala478=
ENST00000388922.9:c.1434C>G MANE Select	ENSP00000373574.4:p.Ala478=
ENST00000388922.8:c.1434C>G	ENSP00000373574.4:p.Ala478=
ENST00000419526.6:c.912C>G	ENSP00000392492.2:p.Ala304=
ENST00000550683.5:c.1476C>G	ENSP00000447884.1:p.Ala492=
NM_000020.2:c.1434C>G , LRG_543t1:c.1434C>G	NP_000011.2:p.Ala478=
NM_001077401.1:c.1434C>G	NP_001070869.1:p.Ala478=
XM_005269235.2:c.1434C>G	XP_005269292.1:p.Ala478=
XM_011539008.1:c.1164C>G	XP_011537310.1:p.Ala388=
XM_024449279.1:c.645C>G	XP_024305047.1:p.Ala215=
NM_000020.3:c.1434C>G MANE Select	NP_000011.2:p.Ala478=
NM_001077401.2:c.1434C>G	NP_001070869.1:p.Ala478=