Canonical Allele Identifier: CA236363147

Gene: ACVRL1

Linked Data

• dbSNP Id: rs558220758
• gnomAD v2: 12-52308046-C-T
• gnomAD v3: 12-51914262-C-T
• gnomAD v4: 12-51914262-C-T
• MyVariant Identifiers: chr12:g.52308046C>T (hg19) ; chr12:g.51914262C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51914262C>T , CM000674.2:g.51914262C>T	GRCh38
NC_000012.11:g.52308046C>T , CM000674.1:g.52308046C>T	GRCh37
NC_000012.10:g.50594313C>T	NCBI36
NG_009549.1:g.11845C>T , LRG_543:g.11845C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.356-177C>T	ENSP00000446724.2:n.356-177C>T
ENST00000551576.6:c.626-177C>T	ENSP00000455848.2:n.626-177C>T
ENST00000552678.2:c.626-177C>T	ENSP00000457394.2:n.626-177C>T
ENST00000388922.9:c.626-177C>T MANE Select	ENSP00000373574.4:n.626-177C>T
ENST00000388922.8:c.626-177C>T	ENSP00000373574.4:n.626-177C>T
ENST00000419526.6:c.104-177C>T	ENSP00000392492.2:n.104-177C>T
ENST00000547400.5:c.356-177C>T	ENSP00000446724.1:n.356-177C>T
ENST00000550683.5:c.668-177C>T	ENSP00000447884.1:n.668-177C>T
NM_000020.2:c.626-177C>T , LRG_543t1:c.626-177C>T	NP_000011.2:n.626-177C>T
NM_001077401.1:c.626-177C>T	NP_001070869.1:n.626-177C>T
XM_005269235.2:c.626-177C>T	XP_005269292.1:n.626-177C>T
XM_011539008.1:c.356-177C>T	XP_011537310.1:n.356-177C>T
XM_024449279.1:c.-164-177C>T	XP_024305047.1:n.-164-177C>T
NM_000020.3:c.626-177C>T MANE Select	NP_000011.2:n.626-177C>T
NM_001077401.2:c.626-177C>T	NP_001070869.1:n.626-177C>T