Canonical Allele Identifier: CA347286850

Gene: ALMS1

Linked Data

• gnomAD v4: 2-73572886-G-T
• MyVariant Identifiers: chr2:g.73800013G>T (hg19) ; chr2:g.73572886G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572886G>T , CM000664.2:g.73572886G>T	GRCh38
NC_000002.11:g.73800013G>T , CM000664.1:g.73800013G>T	GRCh37
NC_000002.10:g.73653521G>T	NCBI36
NG_011690.1:g.192134G>T , LRG_741:g.192134G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10628G>T	ENSP00000507671.1:p.Arg3543Ile
ENST00000682801.1:c.10628G>T	ENSP00000507862.1:p.Arg3543Ile
ENST00000682859.1:c.10628G>T	ENSP00000508222.1:p.Arg3543Ile
ENST00000683791.1:c.3714G>T
ENST00000684460.1:c.7909G>T
ENST00000684548.1:c.10628G>T	ENSP00000507421.1:p.Arg3543Ile
ENST00000684590.1:c.5075G>T	ENSP00000507376.1:p.Arg1692Ile
ENST00000684656.1:c.7954G>T
ENST00000613296.6:c.11009G>T MANE Select	ENSP00000482968.1:p.Arg3670Ile
ENST00000651057.1:c.1163G>T	ENSP00000498504.1:p.Arg388Ile
ENST00000651434.1:c.2365G>T
ENST00000651750.1:c.397G>T
ENST00000652487.1:c.2106G>T
ENST00000423048.5:c.4500G>T	ENSP00000399833.1:n.4500G>T
ENST00000484298.5:c.10883G>T	ENSP00000478155.1:p.Arg3628Ile
ENST00000613296.4:c.11009G>T	ENSP00000482968.1:p.Arg3670Ile
ENST00000614410.4:c.11009G>T	ENSP00000479094.1:p.Arg3670Ile
ENST00000620466.4:n.4812G>T
NM_015120.4:c.11012G>T , LRG_741t1:c.11012G>T	NP_055935.4:p.Arg3671Ile
NM_001378454.1:c.11009G>T MANE Select	NP_001365383.1:p.Arg3670Ile