Canonical Allele Identifier: CA347265486

Gene: ALMS1

Linked Data

• gnomAD v4: 2-73601218-G-A
• MyVariant Identifiers: chr2:g.73828345G>A (hg19) ; chr2:g.73601218G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601218G>A , CM000664.2:g.73601218G>A	GRCh38
NC_000002.11:g.73828345G>A , CM000664.1:g.73828345G>A	GRCh37
NC_000002.10:g.73681853G>A	NCBI36
NG_011690.1:g.220466G>A , LRG_741:g.220466G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11515G>A	ENSP00000507671.1:p.Glu3839Lys
ENST00000682801.1:c.11167-967G>A	ENSP00000507862.1:n.11167-967G>A
ENST00000682859.1:c.11515G>A	ENSP00000508222.1:p.Glu3839Lys
ENST00000683791.1:c.4601G>A
ENST00000684460.1:c.8796G>A
ENST00000684548.1:c.11515G>A	ENSP00000507421.1:p.Glu3839Lys
ENST00000684590.1:c.5962G>A	ENSP00000507376.1:p.Glu1988Lys
ENST00000684656.1:c.8980G>A
ENST00000613296.6:c.11896G>A MANE Select	ENSP00000482968.1:p.Glu3966Lys
ENST00000651057.1:c.2050G>A	ENSP00000498504.1:p.Glu684Lys
ENST00000651434.1:c.3252G>A
ENST00000651750.1:c.1260+337G>A
ENST00000652487.1:c.3067G>A
ENST00000464408.3:n.71G>A
ENST00000484298.5:c.11770G>A	ENSP00000478155.1:p.Glu3924Lys
ENST00000613296.4:c.11896G>A	ENSP00000482968.1:p.Glu3966Lys
ENST00000620466.4:n.5699G>A
NM_015120.4:c.11899G>A , LRG_741t1:c.11899G>A	NP_055935.4:p.Glu3967Lys
NM_001378454.1:c.11896G>A MANE Select	NP_001365383.1:p.Glu3966Lys