Canonical Allele Identifier: CA2618864600

Gene: ACVRL1

Linked Data

• gnomAD v4: 12-51921216-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51921216T>G , CM000674.2:g.51921216T>G	GRCh38
NC_000012.11:g.52315000T>G , CM000674.1:g.52315000T>G	GRCh37
NC_000012.10:g.50601267T>G	NCBI36
NG_009549.1:g.18799T>G , LRG_543:g.18799T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000551576.6:c.*323T>G	ENSP00000455848.2:n.*323T>G
ENST00000388922.9:c.*323T>G MANE Select	ENSP00000373574.4:n.*323T>G
ENST00000550683.5:c.*323T>G	ENSP00000447884.1:n.*323T>G
NM_000020.2:c.*323T>G , LRG_543t1:c.*323T>G	NP_000011.2:n.*323T>G
NM_001077401.1:c.*323T>G	NP_001070869.1:n.*323T>G
XM_005269235.2:c.*323T>G	XP_005269292.1:n.*323T>G
XM_011539008.1:c.*323T>G	XP_011537310.1:n.*323T>G
XM_024449279.1:c.*323T>G	XP_024305047.1:n.*323T>G
NM_000020.3:c.*323T>G MANE Select	NP_000011.2:n.*323T>G
NM_001077401.2:c.*323T>G	NP_001070869.1:n.*323T>G