Canonical Allele Identifier: CA6572759

Gene: ACVRL1

Linked Data

• dbSNP Id: rs186224425
• ExAC: 12:52306202 C / T
• gnomAD v2: 12-52306202-C-T
• gnomAD v3: 12-51912418-C-T
• gnomAD v4: 12-51912418-C-T
• MyVariant Identifiers: chr12:g.52306202C>T (hg19) ; chr12:g.51912418C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51912418C>T , CM000674.2:g.51912418C>T	GRCh38
NC_000012.11:g.52306202C>T , CM000674.1:g.52306202C>T	GRCh37
NC_000012.10:g.50592469C>T	NCBI36
NG_009549.1:g.10001C>T , LRG_543:g.10001C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.-15C>T	ENSP00000446724.2:n.-15C>T
ENST00000551576.6:c.-5-52C>T	ENSP00000455848.2:n.-5-52C>T
ENST00000552678.2:c.-5-52C>T	ENSP00000457394.2:n.-5-52C>T
ENST00000388922.9:c.-5-52C>T MANE Select	ENSP00000373574.4:n.-5-52C>T
ENST00000388922.8:c.-5-52C>T	ENSP00000373574.4:n.-5-52C>T
ENST00000419526.6:c.-15C>T	ENSP00000392492.2:n.-15C>T
ENST00000547400.5:c.-15C>T	ENSP00000446724.1:n.-15C>T
ENST00000550683.5:c.-15C>T	ENSP00000447884.1:n.-15C>T
ENST00000551576.5:c.-5-52C>T	ENSP00000455848.1:n.-5-52C>T
NM_000020.2:c.-5-52C>T , LRG_543t1:c.-5-52C>T	NP_000011.2:n.-5-52C>T
NM_001077401.1:c.-57C>T	NP_001070869.1:n.-57C>T
XM_005269235.2:c.-5-52C>T	XP_005269292.1:n.-5-52C>T
XM_011539008.1:c.-15C>T	XP_011537310.1:n.-15C>T
NM_000020.3:c.-5-52C>T MANE Select	NP_000011.2:n.-5-52C>T
NM_001077401.2:c.-57C>T	NP_001070869.1:n.-57C>T