Canonical Allele Identifier: CA347285666

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73452846C>T , CM000664.2:g.73452846C>T	GRCh38
NC_000002.11:g.73679973C>T , CM000664.1:g.73679973C>T	GRCh37
NC_000002.10:g.73533481C>T	NCBI36
NG_011690.1:g.72094C>T , LRG_741:g.72094C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.6319C>T MANE Select	NP_001365383.1:p.Gln2107Ter
ENST00000613296.6:c.6319C>T MANE Select	ENSP00000482968.1:p.Gln2107Ter
NM_015120.4:c.6322C>T , LRG_741t1:c.6322C>T	NP_055935.4:p.Gln2108Ter
ENST00000423048.5:c.1150C>T	ENSP00000399833.1:p.Gln384Ter
ENST00000484298.5:c.6193C>T	ENSP00000478155.1:p.Gln2065Ter
ENST00000613296.4:c.6319C>T	ENSP00000482968.1:p.Gln2107Ter
ENST00000614410.4:c.6319C>T	ENSP00000479094.1:p.Gln2107Ter
ENST00000620466.4:n.122C>T
ENST00000682565.1:c.5938C>T	ENSP00000507671.1:p.Gln1980Ter
ENST00000682801.1:c.5938C>T	ENSP00000507862.1:p.Gln1980Ter
ENST00000682859.1:c.5938C>T	ENSP00000508222.1:p.Gln1980Ter
ENST00000683791.1:c.685+20555C>T
ENST00000684197.1:n.1288C>T
ENST00000684460.1:c.3390C>T
ENST00000684548.1:c.5938C>T	ENSP00000507421.1:p.Gln1980Ter
ENST00000684590.1:c.436C>T	ENSP00000507376.1:p.Gln146Ter
ENST00000684656.1:c.3390C>T