Canonical Allele Identifier: CA347285803

Gene: ALMS1

Linked Data

• gnomAD v4: 2-73572717-C-G
• MyVariant Identifiers: chr2:g.73799844C>G (hg19) ; chr2:g.73572717C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572717C>G , CM000664.2:g.73572717C>G	GRCh38
NC_000002.11:g.73799844C>G , CM000664.1:g.73799844C>G	GRCh37
NC_000002.10:g.73653352C>G	NCBI36
NG_011690.1:g.191965C>G , LRG_741:g.191965C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10459C>G	ENSP00000507671.1:p.Gln3487Glu
ENST00000682801.1:c.10459C>G	ENSP00000507862.1:p.Gln3487Glu
ENST00000682859.1:c.10459C>G	ENSP00000508222.1:p.Gln3487Glu
ENST00000683791.1:c.3545C>G
ENST00000684460.1:c.7740C>G
ENST00000684548.1:c.10459C>G	ENSP00000507421.1:p.Gln3487Glu
ENST00000684590.1:c.4906C>G	ENSP00000507376.1:p.Gln1636Glu
ENST00000684656.1:c.7785C>G
ENST00000613296.6:c.10840C>G MANE Select	ENSP00000482968.1:p.Gln3614Glu
ENST00000651057.1:c.994C>G	ENSP00000498504.1:p.Gln332Glu
ENST00000651434.1:c.2196C>G
ENST00000651750.1:c.228C>G
ENST00000652487.1:c.1937C>G
ENST00000423048.5:c.4331C>G	ENSP00000399833.1:n.4331C>G
ENST00000484298.5:c.10714C>G	ENSP00000478155.1:p.Gln3572Glu
ENST00000613296.4:c.10840C>G	ENSP00000482968.1:p.Gln3614Glu
ENST00000614410.4:c.10840C>G	ENSP00000479094.1:p.Gln3614Glu
ENST00000620466.4:n.4643C>G
NM_015120.4:c.10843C>G , LRG_741t1:c.10843C>G	NP_055935.4:p.Gln3615Glu
NM_001378454.1:c.10840C>G MANE Select	NP_001365383.1:p.Gln3614Glu