Canonical Allele Identifier: CA384902652

Gene: ACVRL1

Linked Data

• dbSNP Id: rs1234976168
• gnomAD v3: 12-51916143-C-G
• gnomAD v4: 12-51916143-C-G
• MyVariant Identifiers: chr12:g.52309927C>G (hg19) ; chr12:g.51916143C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51916143C>G , CM000674.2:g.51916143C>G	GRCh38
NC_000012.11:g.52309927C>G , CM000674.1:g.52309927C>G	GRCh37
NC_000012.10:g.50596194C>G	NCBI36
NG_009549.1:g.13726C>G , LRG_543:g.13726C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.886C>G	ENSP00000446724.2:p.Arg296Gly
ENST00000551576.6:c.1156C>G	ENSP00000455848.2:p.Arg386Gly
ENST00000552678.2:c.1156C>G	ENSP00000457394.2:p.Arg386Gly
ENST00000388922.9:c.1156C>G MANE Select	ENSP00000373574.4:p.Arg386Gly
ENST00000388922.8:c.1156C>G	ENSP00000373574.4:p.Arg386Gly
ENST00000419526.6:c.634C>G	ENSP00000392492.2:p.Arg212Gly
ENST00000547632.1:n.431C>G
ENST00000550683.5:c.1198C>G	ENSP00000447884.1:p.Arg400Gly
ENST00000552678.1:c.161C>G
NM_000020.2:c.1156C>G , LRG_543t1:c.1156C>G	NP_000011.2:p.Arg386Gly
NM_001077401.1:c.1156C>G	NP_001070869.1:p.Arg386Gly
XM_005269235.2:c.1156C>G	XP_005269292.1:p.Arg386Gly
XM_011539008.1:c.886C>G	XP_011537310.1:p.Arg296Gly
XM_024449279.1:c.367C>G	XP_024305047.1:p.Arg123Gly
NM_000020.3:c.1156C>G MANE Select	NP_000011.2:p.Arg386Gly
NM_001077401.2:c.1156C>G	NP_001070869.1:p.Arg386Gly