Canonical Allele Identifier: CA1032214241

Gene: ALMS1

Linked Data

• dbSNP Id: rs1674941716
• gnomAD v3: 2-73572143-C-T
• gnomAD v4: 2-73572143-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572143C>T , CM000664.2:g.73572143C>T	GRCh38
NC_000002.11:g.73799270C>T , CM000664.1:g.73799270C>T	GRCh37
NC_000002.10:g.73652778C>T	NCBI36
NG_011690.1:g.191391C>T , LRG_741:g.191391C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10004-119C>T	ENSP00000507671.1:n.10004-119C>T
ENST00000682801.1:c.10004-119C>T	ENSP00000507862.1:n.10004-119C>T
ENST00000682859.1:c.10004-119C>T	ENSP00000508222.1:n.10004-119C>T
ENST00000683791.1:c.3090-119C>T
ENST00000684460.1:c.7285-119C>T
ENST00000684548.1:c.10004-119C>T	ENSP00000507421.1:n.10004-119C>T
ENST00000684590.1:c.4451-119C>T	ENSP00000507376.1:n.4451-119C>T
ENST00000684656.1:c.7330-119C>T
ENST00000613296.6:c.10385-119C>T MANE Select	ENSP00000482968.1:n.10385-119C>T
ENST00000651057.1:c.539-119C>T	ENSP00000498504.1:n.539-119C>T
ENST00000651434.1:c.1741-119C>T
ENST00000652487.1:c.1482-119C>T
ENST00000423048.5:c.3876-119C>T	ENSP00000399833.1:n.3876-119C>T
ENST00000484298.5:c.10259-119C>T	ENSP00000478155.1:n.10259-119C>T
ENST00000613296.4:c.10385-119C>T	ENSP00000482968.1:n.10385-119C>T
ENST00000614410.4:c.10385-119C>T	ENSP00000479094.1:n.10385-119C>T
ENST00000620466.4:n.4188-119C>T
NM_015120.4:c.10388-119C>T , LRG_741t1:c.10388-119C>T	NP_055935.4:n.10388-119C>T
NM_001378454.1:c.10385-119C>T MANE Select	NP_001365383.1:n.10385-119C>T