Canonical Allele Identifier: CA1715048

Gene: ALMS1

Linked Data

• dbSNP Id: rs757615972
• ExAC: 2:73799728 G / A
• gnomAD v4: 2-73572601-G-A
• MyVariant Identifiers: chr2:g.73799728G>A (hg19) ; chr2:g.73572601G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572601G>A , CM000664.2:g.73572601G>A	GRCh38
NC_000002.11:g.73799728G>A , CM000664.1:g.73799728G>A	GRCh37
NC_000002.10:g.73653236G>A	NCBI36
NG_011690.1:g.191849G>A , LRG_741:g.191849G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10343G>A	ENSP00000507671.1:p.Gly3448Glu
ENST00000682801.1:c.10343G>A	ENSP00000507862.1:p.Gly3448Glu
ENST00000682859.1:c.10343G>A	ENSP00000508222.1:p.Gly3448Glu
ENST00000683791.1:c.3429G>A
ENST00000684460.1:c.7624G>A
ENST00000684548.1:c.10343G>A	ENSP00000507421.1:p.Gly3448Glu
ENST00000684590.1:c.4790G>A	ENSP00000507376.1:p.Gly1597Glu
ENST00000684656.1:c.7669G>A
ENST00000613296.6:c.10724G>A MANE Select	ENSP00000482968.1:p.Gly3575Glu
ENST00000651057.1:c.878G>A	ENSP00000498504.1:p.Gly293Glu
ENST00000651434.1:c.2080G>A
ENST00000651750.1:c.112G>A
ENST00000652487.1:c.1821G>A
ENST00000423048.5:c.4215G>A	ENSP00000399833.1:n.4215G>A
ENST00000484298.5:c.10598G>A	ENSP00000478155.1:p.Gly3533Glu
ENST00000613296.4:c.10724G>A	ENSP00000482968.1:p.Gly3575Glu
ENST00000614410.4:c.10724G>A	ENSP00000479094.1:p.Gly3575Glu
ENST00000620466.4:n.4527G>A
NM_015120.4:c.10727G>A , LRG_741t1:c.10727G>A	NP_055935.4:p.Gly3576Glu
NM_001378454.1:c.10724G>A MANE Select	NP_001365383.1:p.Gly3575Glu