Canonical Allele Identifier: CA347283218

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73799499G>A (hg19) ; chr2:g.73572372G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572372G>A , CM000664.2:g.73572372G>A	GRCh38
NC_000002.11:g.73799499G>A , CM000664.1:g.73799499G>A	GRCh37
NC_000002.10:g.73653007G>A	NCBI36
NG_011690.1:g.191620G>A , LRG_741:g.191620G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10114G>A	ENSP00000507671.1:p.Glu3372Lys
ENST00000682801.1:c.10114G>A	ENSP00000507862.1:p.Glu3372Lys
ENST00000682859.1:c.10114G>A	ENSP00000508222.1:p.Glu3372Lys
ENST00000683791.1:c.3200G>A
ENST00000684460.1:c.7395G>A
ENST00000684548.1:c.10114G>A	ENSP00000507421.1:p.Glu3372Lys
ENST00000684590.1:c.4561G>A	ENSP00000507376.1:p.Glu1521Lys
ENST00000684656.1:c.7440G>A
ENST00000613296.6:c.10495G>A MANE Select	ENSP00000482968.1:p.Glu3499Lys
ENST00000651057.1:c.649G>A	ENSP00000498504.1:p.Glu217Lys
ENST00000651434.1:c.1851G>A
ENST00000652487.1:c.1592G>A
ENST00000423048.5:c.3986G>A	ENSP00000399833.1:n.3986G>A
ENST00000484298.5:c.10369G>A	ENSP00000478155.1:p.Glu3457Lys
ENST00000613296.4:c.10495G>A	ENSP00000482968.1:p.Glu3499Lys
ENST00000614410.4:c.10495G>A	ENSP00000479094.1:p.Glu3499Lys
ENST00000620466.4:n.4298G>A
NM_015120.4:c.10498G>A , LRG_741t1:c.10498G>A	NP_055935.4:p.Glu3500Lys
NM_001378454.1:c.10495G>A MANE Select	NP_001365383.1:p.Glu3499Lys