Canonical Allele Identifier: CA1715187

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73573290C>T , CM000664.2:g.73573290C>T	GRCh38
NC_000002.11:g.73800417C>T , CM000664.1:g.73800417C>T	GRCh37
NC_000002.10:g.73653925C>T	NCBI36
NG_011690.1:g.192538C>T , LRG_741:g.192538C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.11413C>T MANE Select	NP_001365383.1:p.Arg3805Ter
ENST00000613296.6:c.11413C>T MANE Select	ENSP00000482968.1:p.Arg3805Ter
NM_015120.4:c.11416C>T , LRG_741t1:c.11416C>T	NP_055935.4:p.Arg3806Ter
ENST00000423048.5:c.4904C>T	ENSP00000399833.1:n.4904C>T
ENST00000484298.5:c.11287C>T	ENSP00000478155.1:p.Arg3763Ter
ENST00000613296.4:c.11413C>T	ENSP00000482968.1:p.Arg3805Ter
ENST00000614410.4:c.11413C>T	ENSP00000479094.1:p.Arg3805Ter
ENST00000620466.4:n.5216C>T
ENST00000651057.1:c.1567C>T	ENSP00000498504.1:p.Arg523Ter
ENST00000651434.1:c.2769C>T
ENST00000651750.1:c.801C>T
ENST00000652487.1:c.2510C>T
ENST00000682565.1:c.11032C>T	ENSP00000507671.1:p.Arg3678Ter
ENST00000682801.1:c.11032C>T	ENSP00000507862.1:p.Arg3678Ter
ENST00000682859.1:c.11032C>T	ENSP00000508222.1:p.Arg3678Ter
ENST00000683791.1:c.4118C>T
ENST00000684460.1:c.8313C>T
ENST00000684548.1:c.11032C>T	ENSP00000507421.1:p.Arg3678Ter
ENST00000684590.1:c.5479C>T	ENSP00000507376.1:p.Arg1827Ter
ENST00000684656.1:c.8358C>T