Canonical Allele Identifier: CA1714397

Gene: ALMS1

Linked Data

• dbSNP Id: rs771027461
• ExAC: 2:73717164 A / C
• gnomAD v2: 2-73717164-A-C
• gnomAD v4: 2-73490037-A-C
• MyVariant Identifiers: chr2:g.73717164A>C (hg19) ; chr2:g.73490037A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73490037A>C , CM000664.2:g.73490037A>C	GRCh38
NC_000002.11:g.73717164A>C , CM000664.1:g.73717164A>C	GRCh37
NC_000002.10:g.73570672A>C	NCBI36
NG_011690.1:g.109285A>C , LRG_741:g.109285A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7697A>C	ENSP00000507671.1:p.Glu2566Ala
ENST00000682801.1:c.7697A>C	ENSP00000507862.1:p.Glu2566Ala
ENST00000682859.1:c.7697A>C	ENSP00000508222.1:p.Glu2566Ala
ENST00000683791.1:c.1089A>C
ENST00000684460.1:c.5149A>C
ENST00000684548.1:c.7697A>C	ENSP00000507421.1:p.Glu2566Ala
ENST00000684590.1:c.2144A>C	ENSP00000507376.1:p.Glu715Ala
ENST00000684656.1:c.5149A>C
ENST00000613296.6:c.8078A>C MANE Select	ENSP00000482968.1:p.Glu2693Ala
ENST00000651434.1:c.896-29738A>C
ENST00000423048.5:c.2909A>C	ENSP00000399833.1:p.Glu970Ala
ENST00000484298.5:c.7952A>C	ENSP00000478155.1:p.Glu2651Ala
ENST00000613296.4:c.8078A>C	ENSP00000482968.1:p.Glu2693Ala
ENST00000614410.4:c.8078A>C	ENSP00000479094.1:p.Glu2693Ala
ENST00000620466.4:n.1881A>C
NM_015120.4:c.8081A>C , LRG_741t1:c.8081A>C	NP_055935.4:p.Glu2694Ala
NM_001378454.1:c.8078A>C MANE Select	NP_001365383.1:p.Glu2693Ala