Canonical Allele Identifier: CA1715081

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 1566825
• ClinVar RCV Id: RCV002220575
• dbSNP Id: rs762668289
• ExAC: 2:73799877 T / C
• gnomAD v2: 2-73799877-T-C
• gnomAD v4: 2-73572750-T-C
• MyVariant Identifiers: chr2:g.73799877T>C (hg19) ; chr2:g.73572750T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572750T>C , CM000664.2:g.73572750T>C	GRCh38
NC_000002.11:g.73799877T>C , CM000664.1:g.73799877T>C	GRCh37
NC_000002.10:g.73653385T>C	NCBI36
NG_011690.1:g.191998T>C , LRG_741:g.191998T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10492T>C	ENSP00000507671.1:p.Leu3498=
ENST00000682801.1:c.10492T>C	ENSP00000507862.1:p.Leu3498=
ENST00000682859.1:c.10492T>C	ENSP00000508222.1:p.Leu3498=
ENST00000683791.1:c.3578T>C
ENST00000684460.1:c.7773T>C
ENST00000684548.1:c.10492T>C	ENSP00000507421.1:p.Leu3498=
ENST00000684590.1:c.4939T>C	ENSP00000507376.1:p.Leu1647=
ENST00000684656.1:c.7818T>C
ENST00000613296.6:c.10873T>C MANE Select	ENSP00000482968.1:p.Leu3625=
ENST00000651057.1:c.1027T>C	ENSP00000498504.1:p.Leu343=
ENST00000651434.1:c.2229T>C
ENST00000651750.1:c.261T>C
ENST00000652487.1:c.1970T>C
ENST00000423048.5:c.4364T>C	ENSP00000399833.1:n.4364T>C
ENST00000484298.5:c.10747T>C	ENSP00000478155.1:p.Leu3583=
ENST00000613296.4:c.10873T>C	ENSP00000482968.1:p.Leu3625=
ENST00000614410.4:c.10873T>C	ENSP00000479094.1:p.Leu3625=
ENST00000620466.4:n.4676T>C
NM_015120.4:c.10876T>C , LRG_741t1:c.10876T>C	NP_055935.4:p.Leu3626=
NM_001378454.1:c.10873T>C MANE Select	NP_001365383.1:p.Leu3625=