Canonical Allele Identifier: CA1715414

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 1748760
• ClinVar RCV Id: RCV002345089 ; RCV003103205
• dbSNP Id: rs767131644
• ExAC: 2:73828511 G / A
• gnomAD v2: 2-73828511-G-A
• gnomAD v4: 2-73601384-G-A
• MyVariant Identifiers: chr2:g.73828511G>A (hg19) ; chr2:g.73601384G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601384G>A , CM000664.2:g.73601384G>A	GRCh38
NC_000002.11:g.73828511G>A , CM000664.1:g.73828511G>A	GRCh37
NC_000002.10:g.73682019G>A	NCBI36
NG_011690.1:g.220632G>A , LRG_741:g.220632G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11681G>A	ENSP00000507671.1:p.Gly3894Asp
ENST00000682801.1:c.11167-801G>A	ENSP00000507862.1:n.11167-801G>A
ENST00000682859.1:c.11681G>A	ENSP00000508222.1:p.Gly3894Asp
ENST00000683791.1:c.4767G>A
ENST00000684460.1:c.8962G>A
ENST00000684548.1:c.11681G>A	ENSP00000507421.1:p.Gly3894Asp
ENST00000684590.1:c.6128G>A	ENSP00000507376.1:p.Gly2043Asp
ENST00000684656.1:c.9146G>A
ENST00000613296.6:c.12062G>A MANE Select	ENSP00000482968.1:p.Gly4021Asp
ENST00000651057.1:c.2216G>A	ENSP00000498504.1:p.Gly739Asp
ENST00000651434.1:c.3418G>A
ENST00000651750.1:c.1260+503G>A
ENST00000652487.1:c.3233G>A
ENST00000464408.3:n.237G>A
ENST00000484298.5:c.11936G>A	ENSP00000478155.1:p.Gly3979Asp
ENST00000613296.4:c.12062G>A	ENSP00000482968.1:p.Gly4021Asp
ENST00000620466.4:n.5865G>A
NM_015120.4:c.12065G>A , LRG_741t1:c.12065G>A	NP_055935.4:p.Gly4022Asp
NM_001378454.1:c.12062G>A MANE Select	NP_001365383.1:p.Gly4021Asp