Canonical Allele Identifier: CA347271836

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73550333C>G , CM000664.2:g.73550333C>G	GRCh38
NC_000002.11:g.73777460C>G , CM000664.1:g.73777460C>G	GRCh37
NC_000002.10:g.73630968C>G	NCBI36
NG_011690.1:g.169581C>G , LRG_741:g.169581C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.9974C>G MANE Select	NP_001365383.1:p.Ser3325Ter
ENST00000613296.6:c.9974C>G MANE Select	ENSP00000482968.1:p.Ser3325Ter
NM_015120.4:c.9977C>G , LRG_741t1:c.9977C>G	NP_055935.4:p.Ser3326Ter
ENST00000423048.5:c.3465C>G	ENSP00000399833.1:n.3465C>G
ENST00000476650.2:n.199-6887C>G
ENST00000484298.5:c.9848C>G	ENSP00000478155.1:p.Ser3283Ter
ENST00000613296.4:c.9974C>G	ENSP00000482968.1:p.Ser3325Ter
ENST00000614410.4:c.9974C>G	ENSP00000479094.1:p.Ser3325Ter
ENST00000620466.4:n.3777C>G
ENST00000651057.1:c.128C>G	ENSP00000498504.1:p.Ser43Ter
ENST00000651434.1:c.1330C>G
ENST00000652487.1:c.1071C>G
ENST00000682565.1:c.9593C>G	ENSP00000507671.1:p.Ser3198Ter
ENST00000682801.1:c.9593C>G	ENSP00000507862.1:p.Ser3198Ter
ENST00000682859.1:c.9593C>G	ENSP00000508222.1:p.Ser3198Ter
ENST00000683791.1:c.2985C>G
ENST00000684460.1:c.6979-6887C>G
ENST00000684548.1:c.9593C>G	ENSP00000507421.1:p.Ser3198Ter
ENST00000684590.1:c.4040C>G	ENSP00000507376.1:p.Ser1347Ter
ENST00000684656.1:c.6919C>G