Canonical Allele Identifier: CA347285948

Gene: ALMS1

Linked Data

• dbSNP Id: rs1451553424
• gnomAD v2: 2-73799869-A-C
• gnomAD v4: 2-73572742-A-C
• MyVariant Identifiers: chr2:g.73799869A>C (hg19) ; chr2:g.73572742A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572742A>C , CM000664.2:g.73572742A>C	GRCh38
NC_000002.11:g.73799869A>C , CM000664.1:g.73799869A>C	GRCh37
NC_000002.10:g.73653377A>C	NCBI36
NG_011690.1:g.191990A>C , LRG_741:g.191990A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10484A>C	ENSP00000507671.1:p.Glu3495Ala
ENST00000682801.1:c.10484A>C	ENSP00000507862.1:p.Glu3495Ala
ENST00000682859.1:c.10484A>C	ENSP00000508222.1:p.Glu3495Ala
ENST00000683791.1:c.3570A>C
ENST00000684460.1:c.7765A>C
ENST00000684548.1:c.10484A>C	ENSP00000507421.1:p.Glu3495Ala
ENST00000684590.1:c.4931A>C	ENSP00000507376.1:p.Glu1644Ala
ENST00000684656.1:c.7810A>C
ENST00000613296.6:c.10865A>C MANE Select	ENSP00000482968.1:p.Glu3622Ala
ENST00000651057.1:c.1019A>C	ENSP00000498504.1:p.Glu340Ala
ENST00000651434.1:c.2221A>C
ENST00000651750.1:c.253A>C
ENST00000652487.1:c.1962A>C
ENST00000423048.5:c.4356A>C	ENSP00000399833.1:n.4356A>C
ENST00000484298.5:c.10739A>C	ENSP00000478155.1:p.Glu3580Ala
ENST00000613296.4:c.10865A>C	ENSP00000482968.1:p.Glu3622Ala
ENST00000614410.4:c.10865A>C	ENSP00000479094.1:p.Glu3622Ala
ENST00000620466.4:n.4668A>C
NM_015120.4:c.10868A>C , LRG_741t1:c.10868A>C	NP_055935.4:p.Glu3623Ala
NM_001378454.1:c.10865A>C MANE Select	NP_001365383.1:p.Glu3622Ala