Canonical Allele Identifier: CA2036265768

Gene: ACVRL1

Linked Data

• dbSNP Id: rs1940700572

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51912048G>T , CM000674.2:g.51912048G>T	GRCh38
NC_000012.11:g.52305832G>T , CM000674.1:g.52305832G>T	GRCh37
NC_000012.10:g.50592099G>T	NCBI36
NG_009549.1:g.9631G>T , LRG_543:g.9631G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000551576.6:c.-5-422G>T	ENSP00000455848.2:n.-5-422G>T
ENST00000552678.2:c.-5-422G>T	ENSP00000457394.2:n.-5-422G>T
ENST00000388922.9:c.-5-422G>T MANE Select	ENSP00000373574.4:n.-5-422G>T
ENST00000388922.8:c.-5-422G>T	ENSP00000373574.4:n.-5-422G>T
ENST00000551576.5:c.-5-422G>T	ENSP00000455848.1:n.-5-422G>T
NM_000020.2:c.-5-422G>T , LRG_543t1:c.-5-422G>T	NP_000011.2:n.-5-422G>T
XM_005269235.2:c.-5-422G>T	XP_005269292.1:n.-5-422G>T
NM_000020.3:c.-5-422G>T MANE Select	NP_000011.2:n.-5-422G>T