Canonical Allele Identifier: CA2926017
Gene: CLOCK HGNC NCBI
TMEM165 HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.55453077G>T , CM000666.2:g.55453077G>T GRCh38
NC_000004.11:g.56319244G>T , CM000666.1:g.56319244G>T GRCh37
NC_000004.10:g.56014001G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000513440.6:c.1183C>A (CLOCK) MANE Select ENSP00000426983.1:p.Leu395Ile
ENST00000309964.8:c.1183C>A (CLOCK) ENSP00000308741.4:p.Leu395Ile
ENST00000381322.5:c.1183C>A (CLOCK) ENSP00000370723.1:p.Leu395Ile
ENST00000513440.5:c.1183C>A (CLOCK) ENSP00000426983.1:p.Leu395Ile
ENST00000608091.1:c.1247G>T (TMEM165)
NM_001267843.1:c.1183C>A (CLOCK) NP_001254772.1:p.Leu395Ile
NM_004898.3:c.1183C>A (CLOCK) NP_004889.1:p.Leu395Ile
XM_005265787.1:c.1183C>A (CLOCK) XP_005265844.1:p.Leu395Ile
XM_006714054.2:c.1183C>A (CLOCK) XP_006714117.1:p.Leu395Ile
XM_011534409.1:c.1183C>A (CLOCK) XP_011532711.1:p.Leu395Ile
XM_011534410.1:c.1183C>A (CLOCK) XP_011532712.1:p.Leu395Ile
XM_011534411.1:c.1183C>A (CLOCK) XP_011532713.1:p.Leu395Ile
XM_005265787.2:c.1183C>A (CLOCK) XP_005265844.1:p.Leu395Ile
XM_011534394.3:c.*771G>T (TMEM165) XP_011532696.1:n.*771G>T
XM_011534409.2:c.1183C>A (CLOCK) XP_011532711.1:p.Leu395Ile
XM_011534410.2:c.1183C>A (CLOCK) XP_011532712.1:p.Leu395Ile
XM_011534411.2:c.1183C>A (CLOCK) XP_011532713.1:p.Leu395Ile
XM_017008854.1:c.1183C>A (CLOCK) XP_016864343.1:p.Leu395Ile
XM_017008855.1:c.1006C>A (CLOCK) XP_016864344.1:p.Leu336Ile
XM_024454284.1:c.1183C>A (CLOCK) XP_024310052.1:p.Leu395Ile
NM_004898.4:c.1183C>A (CLOCK) MANE Select NP_004889.1:p.Leu395Ile
NM_001267843.2:c.1183C>A (CLOCK) NP_001254772.1:p.Leu395Ile