Canonical Allele Identifier: CA347271278

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73490853C>G , CM000664.2:g.73490853C>G	GRCh38
NC_000002.11:g.73717980C>G , CM000664.1:g.73717980C>G	GRCh37
NC_000002.10:g.73571488C>G	NCBI36
NG_011690.1:g.110101C>G , LRG_741:g.110101C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.8894C>G MANE Select	NP_001365383.1:p.Ser2965Cys
ENST00000613296.6:c.8894C>G MANE Select	ENSP00000482968.1:p.Ser2965Cys
NM_015120.4:c.8897C>G , LRG_741t1:c.8897C>G	NP_055935.4:p.Ser2966Cys
ENST00000423048.5:c.3030+695C>G	ENSP00000399833.1:n.3030+695C>G
ENST00000484298.5:c.8768C>G	ENSP00000478155.1:p.Ser2923Cys
ENST00000613296.4:c.8894C>G	ENSP00000482968.1:p.Ser2965Cys
ENST00000614410.4:c.8894C>G	ENSP00000479094.1:p.Ser2965Cys
ENST00000620466.4:n.2697C>G
ENST00000651434.1:c.896-28922C>G
ENST00000682565.1:c.8513C>G	ENSP00000507671.1:p.Ser2838Cys
ENST00000682801.1:c.8513C>G	ENSP00000507862.1:p.Ser2838Cys
ENST00000682859.1:c.8513C>G	ENSP00000508222.1:p.Ser2838Cys
ENST00000683791.1:c.1905C>G
ENST00000684460.1:c.5965C>G
ENST00000684548.1:c.8513C>G	ENSP00000507421.1:p.Ser2838Cys
ENST00000684590.1:c.2960C>G	ENSP00000507376.1:p.Ser987Cys
ENST00000684656.1:c.5965C>G