Canonical Allele Identifier: CA347263988

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73716834A>C (hg19) ; chr2:g.73489707A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73489707A>C , CM000664.2:g.73489707A>C	GRCh38
NC_000002.11:g.73716834A>C , CM000664.1:g.73716834A>C	GRCh37
NC_000002.10:g.73570342A>C	NCBI36
NG_011690.1:g.108955A>C , LRG_741:g.108955A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7367A>C	ENSP00000507671.1:p.Glu2456Ala
ENST00000682801.1:c.7367A>C	ENSP00000507862.1:p.Glu2456Ala
ENST00000682859.1:c.7367A>C	ENSP00000508222.1:p.Glu2456Ala
ENST00000683791.1:c.759A>C
ENST00000684460.1:c.4819A>C
ENST00000684548.1:c.7367A>C	ENSP00000507421.1:p.Glu2456Ala
ENST00000684590.1:c.1814A>C	ENSP00000507376.1:p.Glu605Ala
ENST00000684656.1:c.4819A>C
ENST00000613296.6:c.7748A>C MANE Select	ENSP00000482968.1:p.Glu2583Ala
ENST00000651434.1:c.896-30068A>C
ENST00000423048.5:c.2579A>C	ENSP00000399833.1:p.Glu860Ala
ENST00000484298.5:c.7622A>C	ENSP00000478155.1:p.Glu2541Ala
ENST00000613296.4:c.7748A>C	ENSP00000482968.1:p.Glu2583Ala
ENST00000614410.4:c.7748A>C	ENSP00000479094.1:p.Glu2583Ala
ENST00000620466.4:n.1551A>C
NM_015120.4:c.7751A>C , LRG_741t1:c.7751A>C	NP_055935.4:p.Glu2584Ala
NM_001378454.1:c.7748A>C MANE Select	NP_001365383.1:p.Glu2583Ala