Canonical Allele Identifier: CA347276166

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73677316T>A (hg19) ; chr2:g.73450189T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73450189T>A , CM000664.2:g.73450189T>A	GRCh38
NC_000002.11:g.73677316T>A , CM000664.1:g.73677316T>A	GRCh37
NC_000002.10:g.73530824T>A	NCBI36
NG_011690.1:g.69437T>A , LRG_741:g.69437T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.3281T>A	ENSP00000507671.1:p.Val1094Asp
ENST00000682801.1:c.3281T>A	ENSP00000507862.1:p.Val1094Asp
ENST00000682859.1:c.3281T>A	ENSP00000508222.1:p.Val1094Asp
ENST00000683791.1:c.685+17898T>A
ENST00000684460.1:c.733T>A
ENST00000684548.1:c.3281T>A	ENSP00000507421.1:p.Val1094Asp
ENST00000684656.1:c.733T>A
ENST00000613296.6:c.3662T>A MANE Select	ENSP00000482968.1:p.Val1221Asp
ENST00000484298.5:c.3536T>A	ENSP00000478155.1:p.Val1179Asp
ENST00000613296.4:c.3662T>A	ENSP00000482968.1:p.Val1221Asp
ENST00000614410.4:c.3662T>A	ENSP00000479094.1:p.Val1221Asp
NM_015120.4:c.3665T>A , LRG_741t1:c.3665T>A	NP_055935.4:p.Val1222Asp
NM_001378454.1:c.3662T>A MANE Select	NP_001365383.1:p.Val1221Asp