Canonical Allele Identifier: CA347264080

Gene: ALMS1

Linked Data

• gnomAD v4: 2-73489754-A-G
• MyVariant Identifiers: chr2:g.73716881A>G (hg19) ; chr2:g.73489754A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73489754A>G , CM000664.2:g.73489754A>G	GRCh38
NC_000002.11:g.73716881A>G , CM000664.1:g.73716881A>G	GRCh37
NC_000002.10:g.73570389A>G	NCBI36
NG_011690.1:g.109002A>G , LRG_741:g.109002A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7414A>G	ENSP00000507671.1:p.Arg2472Gly
ENST00000682801.1:c.7414A>G	ENSP00000507862.1:p.Arg2472Gly
ENST00000682859.1:c.7414A>G	ENSP00000508222.1:p.Arg2472Gly
ENST00000683791.1:c.806A>G
ENST00000684460.1:c.4866A>G
ENST00000684548.1:c.7414A>G	ENSP00000507421.1:p.Arg2472Gly
ENST00000684590.1:c.1861A>G	ENSP00000507376.1:p.Arg621Gly
ENST00000684656.1:c.4866A>G
ENST00000613296.6:c.7795A>G MANE Select	ENSP00000482968.1:p.Arg2599Gly
ENST00000651434.1:c.896-30021A>G
ENST00000423048.5:c.2626A>G	ENSP00000399833.1:p.Arg876Gly
ENST00000484298.5:c.7669A>G	ENSP00000478155.1:p.Arg2557Gly
ENST00000613296.4:c.7795A>G	ENSP00000482968.1:p.Arg2599Gly
ENST00000614410.4:c.7795A>G	ENSP00000479094.1:p.Arg2599Gly
ENST00000620466.4:n.1598A>G
NM_015120.4:c.7798A>G , LRG_741t1:c.7798A>G	NP_055935.4:p.Arg2600Gly
NM_001378454.1:c.7795A>G MANE Select	NP_001365383.1:p.Arg2599Gly