Canonical Allele Identifier: CA347286738

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 2073280
• ClinVar RCV Id: RCV002944015
• gnomAD v4: 2-73572871-G-T
• MyVariant Identifiers: chr2:g.73799998G>T (hg19) ; chr2:g.73572871G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572871G>T , CM000664.2:g.73572871G>T	GRCh38
NC_000002.11:g.73799998G>T , CM000664.1:g.73799998G>T	GRCh37
NC_000002.10:g.73653506G>T	NCBI36
NG_011690.1:g.192119G>T , LRG_741:g.192119G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10613G>T	ENSP00000507671.1:p.Gly3538Val
ENST00000682801.1:c.10613G>T	ENSP00000507862.1:p.Gly3538Val
ENST00000682859.1:c.10613G>T	ENSP00000508222.1:p.Gly3538Val
ENST00000683791.1:c.3699G>T
ENST00000684460.1:c.7894G>T
ENST00000684548.1:c.10613G>T	ENSP00000507421.1:p.Gly3538Val
ENST00000684590.1:c.5060G>T	ENSP00000507376.1:p.Gly1687Val
ENST00000684656.1:c.7939G>T
ENST00000613296.6:c.10994G>T MANE Select	ENSP00000482968.1:p.Gly3665Val
ENST00000651057.1:c.1148G>T	ENSP00000498504.1:p.Gly383Val
ENST00000651434.1:c.2350G>T
ENST00000651750.1:c.382G>T
ENST00000652487.1:c.2091G>T
ENST00000423048.5:c.4485G>T	ENSP00000399833.1:n.4485G>T
ENST00000484298.5:c.10868G>T	ENSP00000478155.1:p.Gly3623Val
ENST00000613296.4:c.10994G>T	ENSP00000482968.1:p.Gly3665Val
ENST00000614410.4:c.10994G>T	ENSP00000479094.1:p.Gly3665Val
ENST00000620466.4:n.4797G>T
NM_015120.4:c.10997G>T , LRG_741t1:c.10997G>T	NP_055935.4:p.Gly3666Val
NM_001378454.1:c.10994G>T MANE Select	NP_001365383.1:p.Gly3665Val