Canonical Allele Identifier: CA427024487

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 1120996
• ClinVar RCV Id: RCV001451121
• dbSNP Id: rs1438143250
• gnomAD v2: 2-73799492-T-A
• gnomAD v4: 2-73572365-T-A
• MyVariant Identifiers: chr2:g.73799492T>A (hg19) ; chr2:g.73572365T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572365T>A , CM000664.2:g.73572365T>A	GRCh38
NC_000002.11:g.73799492T>A , CM000664.1:g.73799492T>A	GRCh37
NC_000002.10:g.73653000T>A	NCBI36
NG_011690.1:g.191613T>A , LRG_741:g.191613T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10107T>A	ENSP00000507671.1:p.Ile3369=
ENST00000682801.1:c.10107T>A	ENSP00000507862.1:p.Ile3369=
ENST00000682859.1:c.10107T>A	ENSP00000508222.1:p.Ile3369=
ENST00000683791.1:c.3193T>A
ENST00000684460.1:c.7388T>A
ENST00000684548.1:c.10107T>A	ENSP00000507421.1:p.Ile3369=
ENST00000684590.1:c.4554T>A	ENSP00000507376.1:p.Ile1518=
ENST00000684656.1:c.7433T>A
ENST00000613296.6:c.10488T>A MANE Select	ENSP00000482968.1:p.Ile3496=
ENST00000651057.1:c.642T>A	ENSP00000498504.1:p.Ile214=
ENST00000651434.1:c.1844T>A
ENST00000652487.1:c.1585T>A
ENST00000423048.5:c.3979T>A	ENSP00000399833.1:n.3979T>A
ENST00000484298.5:c.10362T>A	ENSP00000478155.1:p.Ile3454=
ENST00000613296.4:c.10488T>A	ENSP00000482968.1:p.Ile3496=
ENST00000614410.4:c.10488T>A	ENSP00000479094.1:p.Ile3496=
ENST00000620466.4:n.4291T>A
NM_015120.4:c.10491T>A , LRG_741t1:c.10491T>A	NP_055935.4:p.Ile3497=
NM_001378454.1:c.10488T>A MANE Select	NP_001365383.1:p.Ile3496=