Canonical Allele Identifier: CA13647224

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 810906
• ClinVar RCV Id: RCV001000283 ; RCV001655660
• dbSNP Id: rs2277381
• gnomAD v2: 12-52306027-C-G
• gnomAD v3: 12-51912243-C-G
• gnomAD v4: 12-51912243-C-G
• MyVariant Identifiers: chr12:g.52306027C>G (hg19) ; chr12:g.51912243C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51912243C>G , CM000674.2:g.51912243C>G	GRCh38
NC_000012.11:g.52306027C>G , CM000674.1:g.52306027C>G	GRCh37
NC_000012.10:g.50592294C>G	NCBI36
NG_009549.1:g.9826C>G , LRG_543:g.9826C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000551576.6:c.-5-227C>G	ENSP00000455848.2:n.-5-227C>G
ENST00000552678.2:c.-5-227C>G	ENSP00000457394.2:n.-5-227C>G
ENST00000388922.9:c.-5-227C>G MANE Select	ENSP00000373574.4:n.-5-227C>G
ENST00000388922.8:c.-5-227C>G	ENSP00000373574.4:n.-5-227C>G
ENST00000551576.5:c.-5-227C>G	ENSP00000455848.1:n.-5-227C>G
NM_000020.2:c.-5-227C>G , LRG_543t1:c.-5-227C>G	NP_000011.2:n.-5-227C>G
XM_005269235.2:c.-5-227C>G	XP_005269292.1:n.-5-227C>G
NM_000020.3:c.-5-227C>G MANE Select	NP_000011.2:n.-5-227C>G