Canonical Allele Identifier: CA347284525

Gene: ALMS1

Linked Data

• gnomAD v4: 2-73572531-G-A
• MyVariant Identifiers: chr2:g.73799658G>A (hg19) ; chr2:g.73572531G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572531G>A , CM000664.2:g.73572531G>A	GRCh38
NC_000002.11:g.73799658G>A , CM000664.1:g.73799658G>A	GRCh37
NC_000002.10:g.73653166G>A	NCBI36
NG_011690.1:g.191779G>A , LRG_741:g.191779G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10273G>A	ENSP00000507671.1:p.Val3425Met
ENST00000682801.1:c.10273G>A	ENSP00000507862.1:p.Val3425Met
ENST00000682859.1:c.10273G>A	ENSP00000508222.1:p.Val3425Met
ENST00000683791.1:c.3359G>A
ENST00000684460.1:c.7554G>A
ENST00000684548.1:c.10273G>A	ENSP00000507421.1:p.Val3425Met
ENST00000684590.1:c.4720G>A	ENSP00000507376.1:p.Val1574Met
ENST00000684656.1:c.7599G>A
ENST00000613296.6:c.10654G>A MANE Select	ENSP00000482968.1:p.Val3552Met
ENST00000651057.1:c.808G>A	ENSP00000498504.1:p.Val270Met
ENST00000651434.1:c.2010G>A
ENST00000651750.1:c.42G>A
ENST00000652487.1:c.1751G>A
ENST00000423048.5:c.4145G>A	ENSP00000399833.1:n.4145G>A
ENST00000484298.5:c.10528G>A	ENSP00000478155.1:p.Val3510Met
ENST00000613296.4:c.10654G>A	ENSP00000482968.1:p.Val3552Met
ENST00000614410.4:c.10654G>A	ENSP00000479094.1:p.Val3552Met
ENST00000620466.4:n.4457G>A
NM_015120.4:c.10657G>A , LRG_741t1:c.10657G>A	NP_055935.4:p.Val3553Met
NM_001378454.1:c.10654G>A MANE Select	NP_001365383.1:p.Val3552Met