Canonical Allele Identifier: CA347276369

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73557262C>A , CM000664.2:g.73557262C>A	GRCh38
NC_000002.11:g.73784389C>A , CM000664.1:g.73784389C>A	GRCh37
NC_000002.10:g.73637897C>A	NCBI36
NG_011690.1:g.176510C>A , LRG_741:g.176510C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.10121C>A MANE Select	NP_001365383.1:p.Ser3374Ter
ENST00000613296.6:c.10121C>A MANE Select	ENSP00000482968.1:p.Ser3374Ter
NM_015120.4:c.10124C>A , LRG_741t1:c.10124C>A	NP_055935.4:p.Ser3375Ter
ENST00000423048.5:c.3612C>A	ENSP00000399833.1:n.3612C>A
ENST00000484298.5:c.9995C>A	ENSP00000478155.1:p.Ser3332Ter
ENST00000613296.4:c.10121C>A	ENSP00000482968.1:p.Ser3374Ter
ENST00000614410.4:c.10121C>A	ENSP00000479094.1:p.Ser3374Ter
ENST00000620466.4:n.3924C>A
ENST00000651057.1:c.275C>A	ENSP00000498504.1:p.Ser92Ter
ENST00000651434.1:c.1477C>A
ENST00000652487.1:c.1218C>A
ENST00000682565.1:c.9740C>A	ENSP00000507671.1:p.Ser3247Ter
ENST00000682801.1:c.9740C>A	ENSP00000507862.1:p.Ser3247Ter
ENST00000682859.1:c.9740C>A	ENSP00000508222.1:p.Ser3247Ter
ENST00000683791.1:c.3089+6825C>A
ENST00000684460.1:c.7021C>A
ENST00000684548.1:c.9740C>A	ENSP00000507421.1:p.Ser3247Ter
ENST00000684590.1:c.4187C>A	ENSP00000507376.1:p.Ser1396Ter
ENST00000684656.1:c.7066C>A