Canonical Allele Identifier: CA347266945

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 2133438
• ClinVar RCV Id: RCV003064038
• MyVariant Identifiers: chr2:g.73717105T>A (hg19) ; chr2:g.73489978T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73489978T>A , CM000664.2:g.73489978T>A	GRCh38
NC_000002.11:g.73717105T>A , CM000664.1:g.73717105T>A	GRCh37
NC_000002.10:g.73570613T>A	NCBI36
NG_011690.1:g.109226T>A , LRG_741:g.109226T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7638T>A	ENSP00000507671.1:p.Asp2546Glu
ENST00000682801.1:c.7638T>A	ENSP00000507862.1:p.Asp2546Glu
ENST00000682859.1:c.7638T>A	ENSP00000508222.1:p.Asp2546Glu
ENST00000683791.1:c.1030T>A
ENST00000684460.1:c.5090T>A
ENST00000684548.1:c.7638T>A	ENSP00000507421.1:p.Asp2546Glu
ENST00000684590.1:c.2085T>A	ENSP00000507376.1:p.Asp695Glu
ENST00000684656.1:c.5090T>A
ENST00000613296.6:c.8019T>A MANE Select	ENSP00000482968.1:p.Asp2673Glu
ENST00000651434.1:c.896-29797T>A
ENST00000423048.5:c.2850T>A	ENSP00000399833.1:p.Asp950Glu
ENST00000484298.5:c.7893T>A	ENSP00000478155.1:p.Asp2631Glu
ENST00000613296.4:c.8019T>A	ENSP00000482968.1:p.Asp2673Glu
ENST00000614410.4:c.8019T>A	ENSP00000479094.1:p.Asp2673Glu
ENST00000620466.4:n.1822T>A
NM_015120.4:c.8022T>A , LRG_741t1:c.8022T>A	NP_055935.4:p.Asp2674Glu
NM_001378454.1:c.8019T>A MANE Select	NP_001365383.1:p.Asp2673Glu