Canonical Allele Identifier: CA347268047

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 1920278
• ClinVar RCV Id: RCV002591069
• MyVariant Identifiers: chr2:g.73717352G>A (hg19) ; chr2:g.73490225G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73490225G>A , CM000664.2:g.73490225G>A	GRCh38
NC_000002.11:g.73717352G>A , CM000664.1:g.73717352G>A	GRCh37
NC_000002.10:g.73570860G>A	NCBI36
NG_011690.1:g.109473G>A , LRG_741:g.109473G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7885G>A	ENSP00000507671.1:p.Glu2629Lys
ENST00000682801.1:c.7885G>A	ENSP00000507862.1:p.Glu2629Lys
ENST00000682859.1:c.7885G>A	ENSP00000508222.1:p.Glu2629Lys
ENST00000683791.1:c.1277G>A
ENST00000684460.1:c.5337G>A
ENST00000684548.1:c.7885G>A	ENSP00000507421.1:p.Glu2629Lys
ENST00000684590.1:c.2332G>A	ENSP00000507376.1:p.Glu778Lys
ENST00000684656.1:c.5337G>A
ENST00000613296.6:c.8266G>A MANE Select	ENSP00000482968.1:p.Glu2756Lys
ENST00000651434.1:c.896-29550G>A
ENST00000423048.5:c.3030+67G>A	ENSP00000399833.1:n.3030+67G>A
ENST00000484298.5:c.8140G>A	ENSP00000478155.1:p.Glu2714Lys
ENST00000613296.4:c.8266G>A	ENSP00000482968.1:p.Glu2756Lys
ENST00000614410.4:c.8266G>A	ENSP00000479094.1:p.Glu2756Lys
ENST00000620466.4:n.2069G>A
NM_015120.4:c.8269G>A , LRG_741t1:c.8269G>A	NP_055935.4:p.Glu2757Lys
NM_001378454.1:c.8266G>A MANE Select	NP_001365383.1:p.Glu2756Lys