Canonical Allele Identifier: CA347287803

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73573047C>T , CM000664.2:g.73573047C>T	GRCh38
NC_000002.11:g.73800174C>T , CM000664.1:g.73800174C>T	GRCh37
NC_000002.10:g.73653682C>T	NCBI36
NG_011690.1:g.192295C>T , LRG_741:g.192295C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.11170C>T MANE Select	NP_001365383.1:p.Gln3724Ter
ENST00000613296.6:c.11170C>T MANE Select	ENSP00000482968.1:p.Gln3724Ter
NM_015120.4:c.11173C>T , LRG_741t1:c.11173C>T	NP_055935.4:p.Gln3725Ter
ENST00000423048.5:c.4661C>T	ENSP00000399833.1:n.4661C>T
ENST00000484298.5:c.11044C>T	ENSP00000478155.1:p.Gln3682Ter
ENST00000613296.4:c.11170C>T	ENSP00000482968.1:p.Gln3724Ter
ENST00000614410.4:c.11170C>T	ENSP00000479094.1:p.Gln3724Ter
ENST00000620466.4:n.4973C>T
ENST00000651057.1:c.1324C>T	ENSP00000498504.1:p.Gln442Ter
ENST00000651434.1:c.2526C>T
ENST00000651750.1:c.558C>T
ENST00000652487.1:c.2267C>T
ENST00000682565.1:c.10789C>T	ENSP00000507671.1:p.Gln3597Ter
ENST00000682801.1:c.10789C>T	ENSP00000507862.1:p.Gln3597Ter
ENST00000682859.1:c.10789C>T	ENSP00000508222.1:p.Gln3597Ter
ENST00000683791.1:c.3875C>T
ENST00000684460.1:c.8070C>T
ENST00000684548.1:c.10789C>T	ENSP00000507421.1:p.Gln3597Ter
ENST00000684590.1:c.5236C>T	ENSP00000507376.1:p.Gln1746Ter
ENST00000684656.1:c.8115C>T