Canonical Allele Identifier: CA1714615

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73491132A>G , CM000664.2:g.73491132A>G	GRCh38
NC_000002.11:g.73718259A>G , CM000664.1:g.73718259A>G	GRCh37
NC_000002.10:g.73571767A>G	NCBI36
NG_011690.1:g.110380A>G , LRG_741:g.110380A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.9173A>G MANE Select	NP_001365383.1:p.Lys3058Arg
ENST00000613296.6:c.9173A>G MANE Select	ENSP00000482968.1:p.Lys3058Arg
NM_015120.4:c.9176A>G , LRG_741t1:c.9176A>G	NP_055935.4:p.Lys3059Arg
ENST00000423048.5:c.3030+974A>G	ENSP00000399833.1:n.3030+974A>G
ENST00000484298.5:c.9047A>G	ENSP00000478155.1:p.Lys3016Arg
ENST00000613296.4:c.9173A>G	ENSP00000482968.1:p.Lys3058Arg
ENST00000614410.4:c.9173A>G	ENSP00000479094.1:p.Lys3058Arg
ENST00000620466.4:n.2976A>G
ENST00000651434.1:c.896-28643A>G
ENST00000652487.1:c.270A>G
ENST00000682565.1:c.8792A>G	ENSP00000507671.1:p.Lys2931Arg
ENST00000682801.1:c.8792A>G	ENSP00000507862.1:p.Lys2931Arg
ENST00000682859.1:c.8792A>G	ENSP00000508222.1:p.Lys2931Arg
ENST00000683791.1:c.2184A>G
ENST00000684460.1:c.6244A>G
ENST00000684548.1:c.8792A>G	ENSP00000507421.1:p.Lys2931Arg
ENST00000684590.1:c.3239A>G	ENSP00000507376.1:p.Lys1080Arg
ENST00000684656.1:c.6244A>G