Canonical Allele Identifier: CA479805287

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 1744834
• ClinVar RCV Id: RCV002351398
• gnomAD v4: 12-51913746-T-G
• MyVariant Identifiers: chr12:g.52307530T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51913746T>G , CM000674.2:g.51913746T>G	GRCh38
NC_000012.11:g.52307530T>G , CM000674.1:g.52307530T>G	GRCh37
NC_000012.10:g.50593797T>G	NCBI36
NG_009549.1:g.11329T>G , LRG_543:g.11329T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.355+396T>G	ENSP00000446724.2:n.355+396T>G
ENST00000551576.6:c.501T>G	ENSP00000455848.2:p.Ser167=
ENST00000552678.2:c.501T>G	ENSP00000457394.2:p.Ser167=
ENST00000388922.9:c.501T>G MANE Select	ENSP00000373574.4:p.Ser167=
ENST00000388922.8:c.501T>G	ENSP00000373574.4:p.Ser167=
ENST00000419526.6:c.104-693T>G	ENSP00000392492.2:n.104-693T>G
ENST00000547400.5:c.355+396T>G	ENSP00000446724.1:n.355+396T>G
ENST00000550683.5:c.543T>G	ENSP00000447884.1:p.Ser181=
NM_000020.2:c.501T>G , LRG_543t1:c.501T>G	NP_000011.2:p.Ser167=
NM_001077401.1:c.501T>G	NP_001070869.1:p.Ser167=
XM_005269235.2:c.501T>G	XP_005269292.1:p.Ser167=
XM_011539008.1:c.355+396T>G	XP_011537310.1:n.355+396T>G
XM_024449279.1:c.-189T>G	XP_024305047.1:n.-189T>G
NM_000020.3:c.501T>G MANE Select	NP_000011.2:p.Ser167=
NM_001077401.2:c.501T>G	NP_001070869.1:p.Ser167=