Canonical Allele Identifier: CA947664822

Gene: ACVRL1

Linked Data

• dbSNP Id: rs1940699889
• gnomAD v3: 12-51912039-G-T
• gnomAD v4: 12-51912039-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51912039G>T , CM000674.2:g.51912039G>T	GRCh38
NC_000012.11:g.52305823G>T , CM000674.1:g.52305823G>T	GRCh37
NC_000012.10:g.50592090G>T	NCBI36
NG_009549.1:g.9622G>T , LRG_543:g.9622G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000551576.6:c.-5-431G>T	ENSP00000455848.2:n.-5-431G>T
ENST00000552678.2:c.-5-431G>T	ENSP00000457394.2:n.-5-431G>T
ENST00000388922.9:c.-5-431G>T MANE Select	ENSP00000373574.4:n.-5-431G>T
ENST00000388922.8:c.-5-431G>T	ENSP00000373574.4:n.-5-431G>T
ENST00000551576.5:c.-5-431G>T	ENSP00000455848.1:n.-5-431G>T
NM_000020.2:c.-5-431G>T , LRG_543t1:c.-5-431G>T	NP_000011.2:n.-5-431G>T
XM_005269235.2:c.-5-431G>T	XP_005269292.1:n.-5-431G>T
NM_000020.3:c.-5-431G>T MANE Select	NP_000011.2:n.-5-431G>T