Canonical Allele Identifier: CA347267476

Gene: ALMS1

Linked Data

• gnomAD v4: 2-73490067-C-A
• MyVariant Identifiers: chr2:g.73717194C>A (hg19) ; chr2:g.73490067C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73490067C>A , CM000664.2:g.73490067C>A	GRCh38
NC_000002.11:g.73717194C>A , CM000664.1:g.73717194C>A	GRCh37
NC_000002.10:g.73570702C>A	NCBI36
NG_011690.1:g.109315C>A , LRG_741:g.109315C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7727C>A	ENSP00000507671.1:p.Pro2576Gln
ENST00000682801.1:c.7727C>A	ENSP00000507862.1:p.Pro2576Gln
ENST00000682859.1:c.7727C>A	ENSP00000508222.1:p.Pro2576Gln
ENST00000683791.1:c.1119C>A
ENST00000684460.1:c.5179C>A
ENST00000684548.1:c.7727C>A	ENSP00000507421.1:p.Pro2576Gln
ENST00000684590.1:c.2174C>A	ENSP00000507376.1:p.Pro725Gln
ENST00000684656.1:c.5179C>A
ENST00000613296.6:c.8108C>A MANE Select	ENSP00000482968.1:p.Pro2703Gln
ENST00000651434.1:c.896-29708C>A
ENST00000423048.5:c.2939C>A	ENSP00000399833.1:p.Pro980Gln
ENST00000484298.5:c.7982C>A	ENSP00000478155.1:p.Pro2661Gln
ENST00000613296.4:c.8108C>A	ENSP00000482968.1:p.Pro2703Gln
ENST00000614410.4:c.8108C>A	ENSP00000479094.1:p.Pro2703Gln
ENST00000620466.4:n.1911C>A
NM_015120.4:c.8111C>A , LRG_741t1:c.8111C>A	NP_055935.4:p.Pro2704Gln
NM_001378454.1:c.8108C>A MANE Select	NP_001365383.1:p.Pro2703Gln