Canonical Allele Identifier: CA347285395

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 1427420
• ClinVar RCV Id: RCV001933700 ; RCV002423074
• dbSNP Id: rs773091397
• gnomAD v4: 2-73572649-C-T
• MyVariant Identifiers: chr2:g.73799776C>T (hg19) ; chr2:g.73572649C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572649C>T , CM000664.2:g.73572649C>T	GRCh38
NC_000002.11:g.73799776C>T , CM000664.1:g.73799776C>T	GRCh37
NC_000002.10:g.73653284C>T	NCBI36
NG_011690.1:g.191897C>T , LRG_741:g.191897C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10391C>T	ENSP00000507671.1:p.Thr3464Ile
ENST00000682801.1:c.10391C>T	ENSP00000507862.1:p.Thr3464Ile
ENST00000682859.1:c.10391C>T	ENSP00000508222.1:p.Thr3464Ile
ENST00000683791.1:c.3477C>T
ENST00000684460.1:c.7672C>T
ENST00000684548.1:c.10391C>T	ENSP00000507421.1:p.Thr3464Ile
ENST00000684590.1:c.4838C>T	ENSP00000507376.1:p.Thr1613Ile
ENST00000684656.1:c.7717C>T
ENST00000613296.6:c.10772C>T MANE Select	ENSP00000482968.1:p.Thr3591Ile
ENST00000651057.1:c.926C>T	ENSP00000498504.1:p.Thr309Ile
ENST00000651434.1:c.2128C>T
ENST00000651750.1:c.160C>T
ENST00000652487.1:c.1869C>T
ENST00000423048.5:c.4263C>T	ENSP00000399833.1:n.4263C>T
ENST00000484298.5:c.10646C>T	ENSP00000478155.1:p.Thr3549Ile
ENST00000613296.4:c.10772C>T	ENSP00000482968.1:p.Thr3591Ile
ENST00000614410.4:c.10772C>T	ENSP00000479094.1:p.Thr3591Ile
ENST00000620466.4:n.4575C>T
NM_015120.4:c.10775C>T , LRG_741t1:c.10775C>T	NP_055935.4:p.Thr3592Ile
NM_001378454.1:c.10772C>T MANE Select	NP_001365383.1:p.Thr3591Ile