Canonical Allele Identifier: CA1715052

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572627C>T , CM000664.2:g.73572627C>T	GRCh38
NC_000002.11:g.73799754C>T , CM000664.1:g.73799754C>T	GRCh37
NC_000002.10:g.73653262C>T	NCBI36
NG_011690.1:g.191875C>T , LRG_741:g.191875C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.10750C>T MANE Select	NP_001365383.1:p.Gln3584Ter
ENST00000613296.6:c.10750C>T MANE Select	ENSP00000482968.1:p.Gln3584Ter
NM_015120.4:c.10753C>T , LRG_741t1:c.10753C>T	NP_055935.4:p.Gln3585Ter
ENST00000423048.5:c.4241C>T	ENSP00000399833.1:n.4241C>T
ENST00000484298.5:c.10624C>T	ENSP00000478155.1:p.Gln3542Ter
ENST00000613296.4:c.10750C>T	ENSP00000482968.1:p.Gln3584Ter
ENST00000614410.4:c.10750C>T	ENSP00000479094.1:p.Gln3584Ter
ENST00000620466.4:n.4553C>T
ENST00000651057.1:c.904C>T	ENSP00000498504.1:p.Gln302Ter
ENST00000651434.1:c.2106C>T
ENST00000651750.1:c.138C>T
ENST00000652487.1:c.1847C>T
ENST00000682565.1:c.10369C>T	ENSP00000507671.1:p.Gln3457Ter
ENST00000682801.1:c.10369C>T	ENSP00000507862.1:p.Gln3457Ter
ENST00000682859.1:c.10369C>T	ENSP00000508222.1:p.Gln3457Ter
ENST00000683791.1:c.3455C>T
ENST00000684460.1:c.7650C>T
ENST00000684548.1:c.10369C>T	ENSP00000507421.1:p.Gln3457Ter
ENST00000684590.1:c.4816C>T	ENSP00000507376.1:p.Gln1606Ter
ENST00000684656.1:c.7695C>T