Canonical Allele Identifier: CA347286199

Gene: ALMS1

Linked Data

• dbSNP Id: rs1674966612
• gnomAD v4: 2-73572797-C-G
• MyVariant Identifiers: chr2:g.73799924C>G (hg19) ; chr2:g.73572797C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572797C>G , CM000664.2:g.73572797C>G	GRCh38
NC_000002.11:g.73799924C>G , CM000664.1:g.73799924C>G	GRCh37
NC_000002.10:g.73653432C>G	NCBI36
NG_011690.1:g.192045C>G , LRG_741:g.192045C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10539C>G	ENSP00000507671.1:p.Ile3513Met
ENST00000682801.1:c.10539C>G	ENSP00000507862.1:p.Ile3513Met
ENST00000682859.1:c.10539C>G	ENSP00000508222.1:p.Ile3513Met
ENST00000683791.1:c.3625C>G
ENST00000684460.1:c.7820C>G
ENST00000684548.1:c.10539C>G	ENSP00000507421.1:p.Ile3513Met
ENST00000684590.1:c.4986C>G	ENSP00000507376.1:p.Ile1662Met
ENST00000684656.1:c.7865C>G
ENST00000613296.6:c.10920C>G MANE Select	ENSP00000482968.1:p.Ile3640Met
ENST00000651057.1:c.1074C>G	ENSP00000498504.1:p.Ile358Met
ENST00000651434.1:c.2276C>G
ENST00000651750.1:c.308C>G
ENST00000652487.1:c.2017C>G
ENST00000423048.5:c.4411C>G	ENSP00000399833.1:n.4411C>G
ENST00000484298.5:c.10794C>G	ENSP00000478155.1:p.Ile3598Met
ENST00000613296.4:c.10920C>G	ENSP00000482968.1:p.Ile3640Met
ENST00000614410.4:c.10920C>G	ENSP00000479094.1:p.Ile3640Met
ENST00000620466.4:n.4723C>G
NM_015120.4:c.10923C>G , LRG_741t1:c.10923C>G	NP_055935.4:p.Ile3641Met
NM_001378454.1:c.10920C>G MANE Select	NP_001365383.1:p.Ile3640Met