Canonical Allele Identifier: CA384898016

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 1303031
• ClinVar RCV Id: RCV001756530 ; RCV002425040 ; RCV003509684
• dbSNP Id: rs1430932447
• gnomAD v4: 12-51913296-C-G
• MyVariant Identifiers: chr12:g.52307080C>G (hg19) ; chr12:g.51913296C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51913296C>G , CM000674.2:g.51913296C>G	GRCh38
NC_000012.11:g.52307080C>G , CM000674.1:g.52307080C>G	GRCh37
NC_000012.10:g.50593347C>G	NCBI36
NG_009549.1:g.10879C>G , LRG_543:g.10879C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.301C>G	ENSP00000446724.2:p.His101Asp
ENST00000551576.6:c.259C>G	ENSP00000455848.2:p.His87Asp
ENST00000552678.2:c.259C>G	ENSP00000457394.2:p.His87Asp
ENST00000388922.9:c.259C>G MANE Select	ENSP00000373574.4:p.His87Asp
ENST00000388922.8:c.259C>G	ENSP00000373574.4:p.His87Asp
ENST00000419526.6:c.103+761C>G	ENSP00000392492.2:n.103+761C>G
ENST00000547400.5:c.301C>G	ENSP00000446724.1:p.His101Asp
ENST00000550683.5:c.301C>G	ENSP00000447884.1:p.His101Asp
ENST00000551576.5:c.259C>G	ENSP00000455848.1:p.His87Asp
NM_000020.2:c.259C>G , LRG_543t1:c.259C>G	NP_000011.2:p.His87Asp
NM_001077401.1:c.259C>G	NP_001070869.1:p.His87Asp
XM_005269235.2:c.259C>G	XP_005269292.1:p.His87Asp
XM_011539008.1:c.301C>G	XP_011537310.1:p.His101Asp
XM_024449279.1:c.-431C>G	XP_024305047.1:n.-431C>G
NM_000020.3:c.259C>G MANE Select	NP_000011.2:p.His87Asp
NM_001077401.2:c.259C>G	NP_001070869.1:p.His87Asp