Canonical Allele Identifier: CA1715033

Gene: ALMS1

Linked Data

• dbSNP Id: rs746086814
• ExAC: 2:73799594 T / C
• gnomAD v2: 2-73799594-T-C
• gnomAD v4: 2-73572467-T-C
• MyVariant Identifiers: chr2:g.73799594T>C (hg19) ; chr2:g.73572467T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572467T>C , CM000664.2:g.73572467T>C	GRCh38
NC_000002.11:g.73799594T>C , CM000664.1:g.73799594T>C	GRCh37
NC_000002.10:g.73653102T>C	NCBI36
NG_011690.1:g.191715T>C , LRG_741:g.191715T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10209T>C	ENSP00000507671.1:p.Leu3403=
ENST00000682801.1:c.10209T>C	ENSP00000507862.1:p.Leu3403=
ENST00000682859.1:c.10209T>C	ENSP00000508222.1:p.Leu3403=
ENST00000683791.1:c.3295T>C
ENST00000684460.1:c.7490T>C
ENST00000684548.1:c.10209T>C	ENSP00000507421.1:p.Leu3403=
ENST00000684590.1:c.4656T>C	ENSP00000507376.1:p.Leu1552=
ENST00000684656.1:c.7535T>C
ENST00000613296.6:c.10590T>C MANE Select	ENSP00000482968.1:p.Leu3530=
ENST00000651057.1:c.744T>C	ENSP00000498504.1:p.Leu248=
ENST00000651434.1:c.1946T>C
ENST00000652487.1:c.1687T>C
ENST00000423048.5:c.4081T>C	ENSP00000399833.1:n.4081T>C
ENST00000484298.5:c.10464T>C	ENSP00000478155.1:p.Leu3488=
ENST00000613296.4:c.10590T>C	ENSP00000482968.1:p.Leu3530=
ENST00000614410.4:c.10590T>C	ENSP00000479094.1:p.Leu3530=
ENST00000620466.4:n.4393T>C
NM_015120.4:c.10593T>C , LRG_741t1:c.10593T>C	NP_055935.4:p.Leu3531=
NM_001378454.1:c.10590T>C MANE Select	NP_001365383.1:p.Leu3530=