Canonical Allele Identifier: CA347282793

Gene: ALMS1

Linked Data

• dbSNP Id: rs1320659765
• gnomAD v2: 2-73799433-T-C
• gnomAD v4: 2-73572306-T-C
• MyVariant Identifiers: chr2:g.73799433T>C (hg19) ; chr2:g.73572306T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572306T>C , CM000664.2:g.73572306T>C	GRCh38
NC_000002.11:g.73799433T>C , CM000664.1:g.73799433T>C	GRCh37
NC_000002.10:g.73652941T>C	NCBI36
NG_011690.1:g.191554T>C , LRG_741:g.191554T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10048T>C	ENSP00000507671.1:p.Phe3350Leu
ENST00000682801.1:c.10048T>C	ENSP00000507862.1:p.Phe3350Leu
ENST00000682859.1:c.10048T>C	ENSP00000508222.1:p.Phe3350Leu
ENST00000683791.1:c.3134T>C
ENST00000684460.1:c.7329T>C
ENST00000684548.1:c.10048T>C	ENSP00000507421.1:p.Phe3350Leu
ENST00000684590.1:c.4495T>C	ENSP00000507376.1:p.Phe1499Leu
ENST00000684656.1:c.7374T>C
ENST00000613296.6:c.10429T>C MANE Select	ENSP00000482968.1:p.Phe3477Leu
ENST00000651057.1:c.583T>C	ENSP00000498504.1:p.Phe195Leu
ENST00000651434.1:c.1785T>C
ENST00000652487.1:c.1526T>C
ENST00000423048.5:c.3920T>C	ENSP00000399833.1:n.3920T>C
ENST00000484298.5:c.10303T>C	ENSP00000478155.1:p.Phe3435Leu
ENST00000613296.4:c.10429T>C	ENSP00000482968.1:p.Phe3477Leu
ENST00000614410.4:c.10429T>C	ENSP00000479094.1:p.Phe3477Leu
ENST00000620466.4:n.4232T>C
NM_015120.4:c.10432T>C , LRG_741t1:c.10432T>C	NP_055935.4:p.Phe3478Leu
NM_001378454.1:c.10429T>C MANE Select	NP_001365383.1:p.Phe3477Leu