Canonical Allele Identifier: CA347267669

Gene: ALMS1

Linked Data

• gnomAD v4: 2-73490108-T-G
• MyVariant Identifiers: chr2:g.73717235T>G (hg19) ; chr2:g.73490108T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73490108T>G , CM000664.2:g.73490108T>G	GRCh38
NC_000002.11:g.73717235T>G , CM000664.1:g.73717235T>G	GRCh37
NC_000002.10:g.73570743T>G	NCBI36
NG_011690.1:g.109356T>G , LRG_741:g.109356T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7768T>G	ENSP00000507671.1:p.Phe2590Val
ENST00000682801.1:c.7768T>G	ENSP00000507862.1:p.Phe2590Val
ENST00000682859.1:c.7768T>G	ENSP00000508222.1:p.Phe2590Val
ENST00000683791.1:c.1160T>G
ENST00000684460.1:c.5220T>G
ENST00000684548.1:c.7768T>G	ENSP00000507421.1:p.Phe2590Val
ENST00000684590.1:c.2215T>G	ENSP00000507376.1:p.Phe739Val
ENST00000684656.1:c.5220T>G
ENST00000613296.6:c.8149T>G MANE Select	ENSP00000482968.1:p.Phe2717Val
ENST00000651434.1:c.896-29667T>G
ENST00000423048.5:c.2980T>G	ENSP00000399833.1:p.Phe994Val
ENST00000484298.5:c.8023T>G	ENSP00000478155.1:p.Phe2675Val
ENST00000613296.4:c.8149T>G	ENSP00000482968.1:p.Phe2717Val
ENST00000614410.4:c.8149T>G	ENSP00000479094.1:p.Phe2717Val
ENST00000620466.4:n.1952T>G
NM_015120.4:c.8152T>G , LRG_741t1:c.8152T>G	NP_055935.4:p.Phe2718Val
NM_001378454.1:c.8149T>G MANE Select	NP_001365383.1:p.Phe2717Val