Canonical Allele Identifier: CA50386294

Gene: ALMS1

Linked Data

• dbSNP Id: rs765108975
• gnomAD v4: 2-73572485-C-G
• MyVariant Identifiers: chr2:g.73799612C>G (hg19) ; chr2:g.73572485C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572485C>G , CM000664.2:g.73572485C>G	GRCh38
NC_000002.11:g.73799612C>G , CM000664.1:g.73799612C>G	GRCh37
NC_000002.10:g.73653120C>G	NCBI36
NG_011690.1:g.191733C>G , LRG_741:g.191733C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10227C>G	ENSP00000507671.1:p.Asp3409Glu
ENST00000682801.1:c.10227C>G	ENSP00000507862.1:p.Asp3409Glu
ENST00000682859.1:c.10227C>G	ENSP00000508222.1:p.Asp3409Glu
ENST00000683791.1:c.3313C>G
ENST00000684460.1:c.7508C>G
ENST00000684548.1:c.10227C>G	ENSP00000507421.1:p.Asp3409Glu
ENST00000684590.1:c.4674C>G	ENSP00000507376.1:p.Asp1558Glu
ENST00000684656.1:c.7553C>G
ENST00000613296.6:c.10608C>G MANE Select	ENSP00000482968.1:p.Asp3536Glu
ENST00000651057.1:c.762C>G	ENSP00000498504.1:p.Asp254Glu
ENST00000651434.1:c.1964C>G
ENST00000652487.1:c.1705C>G
ENST00000423048.5:c.4099C>G	ENSP00000399833.1:n.4099C>G
ENST00000484298.5:c.10482C>G	ENSP00000478155.1:p.Asp3494Glu
ENST00000613296.4:c.10608C>G	ENSP00000482968.1:p.Asp3536Glu
ENST00000614410.4:c.10608C>G	ENSP00000479094.1:p.Asp3536Glu
ENST00000620466.4:n.4411C>G
NM_015120.4:c.10611C>G , LRG_741t1:c.10611C>G	NP_055935.4:p.Asp3537Glu
NM_001378454.1:c.10608C>G MANE Select	NP_001365383.1:p.Asp3536Glu