Canonical Allele Identifier: CA347284926

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73799704T>A (hg19) ; chr2:g.73572577T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572577T>A , CM000664.2:g.73572577T>A	GRCh38
NC_000002.11:g.73799704T>A , CM000664.1:g.73799704T>A	GRCh37
NC_000002.10:g.73653212T>A	NCBI36
NG_011690.1:g.191825T>A , LRG_741:g.191825T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10319T>A	ENSP00000507671.1:p.Val3440Asp
ENST00000682801.1:c.10319T>A	ENSP00000507862.1:p.Val3440Asp
ENST00000682859.1:c.10319T>A	ENSP00000508222.1:p.Val3440Asp
ENST00000683791.1:c.3405T>A
ENST00000684460.1:c.7600T>A
ENST00000684548.1:c.10319T>A	ENSP00000507421.1:p.Val3440Asp
ENST00000684590.1:c.4766T>A	ENSP00000507376.1:p.Val1589Asp
ENST00000684656.1:c.7645T>A
ENST00000613296.6:c.10700T>A MANE Select	ENSP00000482968.1:p.Val3567Asp
ENST00000651057.1:c.854T>A	ENSP00000498504.1:p.Val285Asp
ENST00000651434.1:c.2056T>A
ENST00000651750.1:c.88T>A
ENST00000652487.1:c.1797T>A
ENST00000423048.5:c.4191T>A	ENSP00000399833.1:n.4191T>A
ENST00000484298.5:c.10574T>A	ENSP00000478155.1:p.Val3525Asp
ENST00000613296.4:c.10700T>A	ENSP00000482968.1:p.Val3567Asp
ENST00000614410.4:c.10700T>A	ENSP00000479094.1:p.Val3567Asp
ENST00000620466.4:n.4503T>A
NM_015120.4:c.10703T>A , LRG_741t1:c.10703T>A	NP_055935.4:p.Val3568Asp
NM_001378454.1:c.10700T>A MANE Select	NP_001365383.1:p.Val3567Asp