Canonical Allele Identifier: CA1713661

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 459867
• ClinVar RCV Id: RCV000526065 ; RCV001375572 ; RCV001172518 ; RCV001565361 ; RCV002330845
• dbSNP Id: rs200529564
• ExAC: 2:73677876 G / A
• gnomAD v2: 2-73677876-G-A
• gnomAD v3: 2-73450749-G-A
• gnomAD v4: 2-73450749-G-A
• MyVariant Identifiers: chr2:g.73677876G>A (hg19) ; chr2:g.73450749G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73450749G>A , CM000664.2:g.73450749G>A	GRCh38
NC_000002.11:g.73677876G>A , CM000664.1:g.73677876G>A	GRCh37
NC_000002.10:g.73531384G>A	NCBI36
NG_011690.1:g.69997G>A , LRG_741:g.69997G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.3841G>A	ENSP00000507671.1:p.Val1281Ile
ENST00000682801.1:c.3841G>A	ENSP00000507862.1:p.Val1281Ile
ENST00000682859.1:c.3841G>A	ENSP00000508222.1:p.Val1281Ile
ENST00000683791.1:c.685+18458G>A
ENST00000684460.1:c.1293G>A
ENST00000684548.1:c.3841G>A	ENSP00000507421.1:p.Val1281Ile
ENST00000684656.1:c.1293G>A
ENST00000613296.6:c.4222G>A MANE Select	ENSP00000482968.1:p.Val1408Ile
ENST00000484298.5:c.4096G>A	ENSP00000478155.1:p.Val1366Ile
ENST00000613296.4:c.4222G>A	ENSP00000482968.1:p.Val1408Ile
ENST00000614410.4:c.4222G>A	ENSP00000479094.1:p.Val1408Ile
NM_015120.4:c.4225G>A , LRG_741t1:c.4225G>A	NP_055935.4:p.Val1409Ile
NM_001378454.1:c.4222G>A MANE Select	NP_001365383.1:p.Val1408Ile