Canonical Allele Identifier: CA347266827

Gene: ALMS1

Linked Data

• gnomAD v4: 2-73601381-C-G
• MyVariant Identifiers: chr2:g.73828508C>G (hg19) ; chr2:g.73601381C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601381C>G , CM000664.2:g.73601381C>G	GRCh38
NC_000002.11:g.73828508C>G , CM000664.1:g.73828508C>G	GRCh37
NC_000002.10:g.73682016C>G	NCBI36
NG_011690.1:g.220629C>G , LRG_741:g.220629C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11678C>G	ENSP00000507671.1:p.Pro3893Arg
ENST00000682801.1:c.11167-804C>G	ENSP00000507862.1:n.11167-804C>G
ENST00000682859.1:c.11678C>G	ENSP00000508222.1:p.Pro3893Arg
ENST00000683791.1:c.4764C>G
ENST00000684460.1:c.8959C>G
ENST00000684548.1:c.11678C>G	ENSP00000507421.1:p.Pro3893Arg
ENST00000684590.1:c.6125C>G	ENSP00000507376.1:p.Pro2042Arg
ENST00000684656.1:c.9143C>G
ENST00000613296.6:c.12059C>G MANE Select	ENSP00000482968.1:p.Pro4020Arg
ENST00000651057.1:c.2213C>G	ENSP00000498504.1:p.Pro738Arg
ENST00000651434.1:c.3415C>G
ENST00000651750.1:c.1260+500C>G
ENST00000652487.1:c.3230C>G
ENST00000464408.3:n.234C>G
ENST00000484298.5:c.11933C>G	ENSP00000478155.1:p.Pro3978Arg
ENST00000613296.4:c.12059C>G	ENSP00000482968.1:p.Pro4020Arg
ENST00000620466.4:n.5862C>G
NM_015120.4:c.12062C>G , LRG_741t1:c.12062C>G	NP_055935.4:p.Pro4021Arg
NM_001378454.1:c.12059C>G MANE Select	NP_001365383.1:p.Pro4020Arg