Canonical Allele Identifier: CA347281396

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73519986C>T , CM000664.2:g.73519986C>T	GRCh38
NC_000002.11:g.73747113C>T , CM000664.1:g.73747113C>T	GRCh37
NC_000002.10:g.73600621C>T	NCBI36
NG_011690.1:g.139234C>T , LRG_741:g.139234C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.9751C>T MANE Select	NP_001365383.1:p.Gln3251Ter
ENST00000613296.6:c.9751C>T MANE Select	ENSP00000482968.1:p.Gln3251Ter
NM_015120.4:c.9754C>T , LRG_741t1:c.9754C>T	NP_055935.4:p.Gln3252Ter
ENST00000423048.5:c.3242C>T	ENSP00000399833.1:n.3242C>T
ENST00000476650.2:n.42C>T
ENST00000484298.5:c.9625C>T	ENSP00000478155.1:p.Gln3209Ter
ENST00000613296.4:c.9751C>T	ENSP00000482968.1:p.Gln3251Ter
ENST00000614410.4:c.9751C>T	ENSP00000479094.1:p.Gln3251Ter
ENST00000620466.4:n.3554C>T
ENST00000651057.1:c.31C>T	ENSP00000498504.1:p.Gln11Ter
ENST00000651434.1:c.1107C>T
ENST00000652487.1:c.848C>T
ENST00000682565.1:c.9370C>T	ENSP00000507671.1:p.Gln3124Ter
ENST00000682801.1:c.9370C>T	ENSP00000507862.1:p.Gln3124Ter
ENST00000682859.1:c.9370C>T	ENSP00000508222.1:p.Gln3124Ter
ENST00000683791.1:c.2762C>T
ENST00000684460.1:c.6822C>T
ENST00000684548.1:c.9370C>T	ENSP00000507421.1:p.Gln3124Ter
ENST00000684590.1:c.3817C>T	ENSP00000507376.1:p.Gln1273Ter
ENST00000684656.1:c.6822C>T