Canonical Allele Identifier: CA1715023

Gene: ALMS1

Linked Data

• dbSNP Id: rs754602489
• ExAC: 2:73799555 T / G
• gnomAD v2: 2-73799555-T-G
• gnomAD v4: 2-73572428-T-G
• MyVariant Identifiers: chr2:g.73799555T>G (hg19) ; chr2:g.73572428T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572428T>G , CM000664.2:g.73572428T>G	GRCh38
NC_000002.11:g.73799555T>G , CM000664.1:g.73799555T>G	GRCh37
NC_000002.10:g.73653063T>G	NCBI36
NG_011690.1:g.191676T>G , LRG_741:g.191676T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10170T>G	ENSP00000507671.1:p.His3390Gln
ENST00000682801.1:c.10170T>G	ENSP00000507862.1:p.His3390Gln
ENST00000682859.1:c.10170T>G	ENSP00000508222.1:p.His3390Gln
ENST00000683791.1:c.3256T>G
ENST00000684460.1:c.7451T>G
ENST00000684548.1:c.10170T>G	ENSP00000507421.1:p.His3390Gln
ENST00000684590.1:c.4617T>G	ENSP00000507376.1:p.His1539Gln
ENST00000684656.1:c.7496T>G
ENST00000613296.6:c.10551T>G MANE Select	ENSP00000482968.1:p.His3517Gln
ENST00000651057.1:c.705T>G	ENSP00000498504.1:p.His235Gln
ENST00000651434.1:c.1907T>G
ENST00000652487.1:c.1648T>G
ENST00000423048.5:c.4042T>G	ENSP00000399833.1:n.4042T>G
ENST00000484298.5:c.10425T>G	ENSP00000478155.1:p.His3475Gln
ENST00000613296.4:c.10551T>G	ENSP00000482968.1:p.His3517Gln
ENST00000614410.4:c.10551T>G	ENSP00000479094.1:p.His3517Gln
ENST00000620466.4:n.4354T>G
NM_015120.4:c.10554T>G , LRG_741t1:c.10554T>G	NP_055935.4:p.His3518Gln
NM_001378454.1:c.10551T>G MANE Select	NP_001365383.1:p.His3517Gln