Canonical Allele Identifier: CA1714330

Gene: ALMS1

Linked Data

• dbSNP Id: rs753424368
• ExAC: 2:73716807 G / A
• gnomAD v4: 2-73489680-G-A
• MyVariant Identifiers: chr2:g.73716807G>A (hg19) ; chr2:g.73489680G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73489680G>A , CM000664.2:g.73489680G>A	GRCh38
NC_000002.11:g.73716807G>A , CM000664.1:g.73716807G>A	GRCh37
NC_000002.10:g.73570315G>A	NCBI36
NG_011690.1:g.108928G>A , LRG_741:g.108928G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7340G>A	ENSP00000507671.1:p.Cys2447Tyr
ENST00000682801.1:c.7340G>A	ENSP00000507862.1:p.Cys2447Tyr
ENST00000682859.1:c.7340G>A	ENSP00000508222.1:p.Cys2447Tyr
ENST00000683791.1:c.732G>A
ENST00000684460.1:c.4792G>A
ENST00000684548.1:c.7340G>A	ENSP00000507421.1:p.Cys2447Tyr
ENST00000684590.1:c.1787G>A	ENSP00000507376.1:p.Cys596Tyr
ENST00000684656.1:c.4792G>A
ENST00000613296.6:c.7721G>A MANE Select	ENSP00000482968.1:p.Cys2574Tyr
ENST00000651434.1:c.896-30095G>A
ENST00000423048.5:c.2552G>A	ENSP00000399833.1:p.Cys851Tyr
ENST00000484298.5:c.7595G>A	ENSP00000478155.1:p.Cys2532Tyr
ENST00000613296.4:c.7721G>A	ENSP00000482968.1:p.Cys2574Tyr
ENST00000614410.4:c.7721G>A	ENSP00000479094.1:p.Cys2574Tyr
ENST00000620466.4:n.1524G>A
NM_015120.4:c.7724G>A , LRG_741t1:c.7724G>A	NP_055935.4:p.Cys2575Tyr
NM_001378454.1:c.7721G>A MANE Select	NP_001365383.1:p.Cys2574Tyr