Canonical Allele Identifier: CA347265453

Gene: ALMS1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11507T>G	ENSP00000507671.1:p.Val3836Gly
ENST00000682801.1:c.11167-975T>G	ENSP00000507862.1:n.11167-975T>G
ENST00000682859.1:c.11507T>G	ENSP00000508222.1:p.Val3836Gly
ENST00000683791.1:c.4593T>G
ENST00000684460.1:c.8788T>G
ENST00000684548.1:c.11507T>G	ENSP00000507421.1:p.Val3836Gly
ENST00000684590.1:c.5954T>G	ENSP00000507376.1:p.Val1985Gly
ENST00000684656.1:c.8972T>G
ENST00000613296.6:c.11888T>G MANE Select	ENSP00000482968.1:p.Val3963Gly
ENST00000651057.1:c.2042T>G	ENSP00000498504.1:p.Val681Gly
ENST00000651434.1:c.3244T>G
ENST00000651750.1:c.1260+329T>G
ENST00000652487.1:c.3059T>G
ENST00000464408.3:n.63T>G
ENST00000484298.5:c.11762T>G	ENSP00000478155.1:p.Val3921Gly
ENST00000613296.4:c.11888T>G	ENSP00000482968.1:p.Val3963Gly
ENST00000620466.4:n.5691T>G
NM_015120.4:c.11891T>G , LRG_741t1:c.11891T>G	NP_055935.4:p.Val3964Gly
NM_001378454.1:c.11888T>G MANE Select	NP_001365383.1:p.Val3963Gly