Canonical Allele Identifier: CA50378341

Gene: ALMS1

Linked Data

• dbSNP Id: rs45522037
• gnomAD v2: 2-73717350-C-T
• gnomAD v4: 2-73490223-C-T
• MyVariant Identifiers: chr2:g.73717350C>T (hg19) ; chr2:g.73490223C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73490223C>T , CM000664.2:g.73490223C>T	GRCh38
NC_000002.11:g.73717350C>T , CM000664.1:g.73717350C>T	GRCh37
NC_000002.10:g.73570858C>T	NCBI36
NG_011690.1:g.109471C>T , LRG_741:g.109471C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7883C>T	ENSP00000507671.1:p.Thr2628Ile
ENST00000682801.1:c.7883C>T	ENSP00000507862.1:p.Thr2628Ile
ENST00000682859.1:c.7883C>T	ENSP00000508222.1:p.Thr2628Ile
ENST00000683791.1:c.1275C>T
ENST00000684460.1:c.5335C>T
ENST00000684548.1:c.7883C>T	ENSP00000507421.1:p.Thr2628Ile
ENST00000684590.1:c.2330C>T	ENSP00000507376.1:p.Thr777Ile
ENST00000684656.1:c.5335C>T
ENST00000613296.6:c.8264C>T MANE Select	ENSP00000482968.1:p.Thr2755Ile
ENST00000651434.1:c.896-29552C>T
ENST00000423048.5:c.3030+65C>T	ENSP00000399833.1:n.3030+65C>T
ENST00000484298.5:c.8138C>T	ENSP00000478155.1:p.Thr2713Ile
ENST00000613296.4:c.8264C>T	ENSP00000482968.1:p.Thr2755Ile
ENST00000614410.4:c.8264C>T	ENSP00000479094.1:p.Thr2755Ile
ENST00000620466.4:n.2067C>T
NM_015120.4:c.8267C>T , LRG_741t1:c.8267C>T	NP_055935.4:p.Thr2756Ile
NM_001378454.1:c.8264C>T MANE Select	NP_001365383.1:p.Thr2755Ile