Canonical Allele Identifier: CA347265451

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73828337T>A (hg19) ; chr2:g.73601210T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601210T>A , CM000664.2:g.73601210T>A	GRCh38
NC_000002.11:g.73828337T>A , CM000664.1:g.73828337T>A	GRCh37
NC_000002.10:g.73681845T>A	NCBI36
NG_011690.1:g.220458T>A , LRG_741:g.220458T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11507T>A	ENSP00000507671.1:p.Val3836Asp
ENST00000682801.1:c.11167-975T>A	ENSP00000507862.1:n.11167-975T>A
ENST00000682859.1:c.11507T>A	ENSP00000508222.1:p.Val3836Asp
ENST00000683791.1:c.4593T>A
ENST00000684460.1:c.8788T>A
ENST00000684548.1:c.11507T>A	ENSP00000507421.1:p.Val3836Asp
ENST00000684590.1:c.5954T>A	ENSP00000507376.1:p.Val1985Asp
ENST00000684656.1:c.8972T>A
ENST00000613296.6:c.11888T>A MANE Select	ENSP00000482968.1:p.Val3963Asp
ENST00000651057.1:c.2042T>A	ENSP00000498504.1:p.Val681Asp
ENST00000651434.1:c.3244T>A
ENST00000651750.1:c.1260+329T>A
ENST00000652487.1:c.3059T>A
ENST00000464408.3:n.63T>A
ENST00000484298.5:c.11762T>A	ENSP00000478155.1:p.Val3921Asp
ENST00000613296.4:c.11888T>A	ENSP00000482968.1:p.Val3963Asp
ENST00000620466.4:n.5691T>A
NM_015120.4:c.11891T>A , LRG_741t1:c.11891T>A	NP_055935.4:p.Val3964Asp
NM_001378454.1:c.11888T>A MANE Select	NP_001365383.1:p.Val3963Asp