Canonical Allele Identifier: CA427015688

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73491034A>G , CM000664.2:g.73491034A>G	GRCh38
NC_000002.11:g.73718161A>G , CM000664.1:g.73718161A>G	GRCh37
NC_000002.10:g.73571669A>G	NCBI36
NG_011690.1:g.110282A>G , LRG_741:g.110282A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.9075A>G MANE Select	NP_001365383.1:p.Pro3025=
ENST00000613296.6:c.9075A>G MANE Select	ENSP00000482968.1:p.Pro3025=
NM_015120.4:c.9078A>G , LRG_741t1:c.9078A>G	NP_055935.4:p.Pro3026=
ENST00000423048.5:c.3030+876A>G	ENSP00000399833.1:n.3030+876A>G
ENST00000484298.5:c.8949A>G	ENSP00000478155.1:p.Pro2983=
ENST00000613296.4:c.9075A>G	ENSP00000482968.1:p.Pro3025=
ENST00000614410.4:c.9075A>G	ENSP00000479094.1:p.Pro3025=
ENST00000620466.4:n.2878A>G
ENST00000651434.1:c.896-28741A>G
ENST00000652487.1:c.172A>G
ENST00000682565.1:c.8694A>G	ENSP00000507671.1:p.Pro2898=
ENST00000682801.1:c.8694A>G	ENSP00000507862.1:p.Pro2898=
ENST00000682859.1:c.8694A>G	ENSP00000508222.1:p.Pro2898=
ENST00000683791.1:c.2086A>G
ENST00000684460.1:c.6146A>G
ENST00000684548.1:c.8694A>G	ENSP00000507421.1:p.Pro2898=
ENST00000684590.1:c.3141A>G	ENSP00000507376.1:p.Pro1047=
ENST00000684656.1:c.6146A>G