Canonical Allele Identifier: CA357823574
Gene: TBCK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.106242489G>A , CM000666.2:g.106242489G>A GRCh38
NC_000004.11:g.107163646G>A , CM000666.1:g.107163646G>A GRCh37
NC_000004.10:g.107383095G>A NCBI36
NG_034057.2:g.84007C>T
NG_034057.3:g.79195C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001163435.3:c.1151C>T MANE Select NP_001156907.2:p.Ser384Leu
ENST00000394708.7:c.1151C>T MANE Select ENSP00000378198.2:p.Ser384Leu
NM_001163435.2:c.1151C>T NP_001156907.1:p.Ser384Leu
NM_001163436.2:c.1151C>T NP_001156908.1:p.Ser384Leu
NM_001163436.4:c.1151C>T NP_001156908.2:p.Ser384Leu
NM_001163437.2:c.1034C>T NP_001156909.1:p.Ser345Leu
NM_001163437.3:c.1034C>T NP_001156909.2:p.Ser345Leu
NM_001290768.1:c.635C>T NP_001277697.1:p.Ser212Leu
NM_001290768.2:c.635C>T NP_001277697.2:p.Ser212Leu
NM_033115.4:c.962C>T NP_149106.2:p.Ser321Leu
NM_033115.5:c.962C>T NP_149106.3:p.Ser321Leu
ENST00000273980.10:c.1151C>T ENSP00000273980.4:p.Ser384Leu
ENST00000273980.9:c.1151C>T ENSP00000273980.4:p.Ser384Leu
ENST00000361687.8:c.962C>T ENSP00000355338.4:p.Ser321Leu
ENST00000394706.7:c.1034C>T ENSP00000378196.3:p.Ser345Leu
ENST00000394708.6:c.1151C>T ENSP00000378198.2:p.Ser384Leu
ENST00000432496.6:c.1151C>T ENSP00000405847.2:p.Ser384Leu
ENST00000467183.6:c.*790C>T ENSP00000421182.1:n.*790C>T
ENST00000508666.5:c.367C>T
ENST00000510927.5:n.804C>T
XM_006714419.2:c.1151C>T XP_006714482.1:p.Ser384Leu
XM_011532417.1:c.1151C>T XP_011530719.1:p.Ser384Leu
XM_011532417.2:c.1151C>T XP_011530719.1:p.Ser384Leu
XM_011532418.1:c.833C>T XP_011530720.1:p.Ser278Leu
XM_011532419.1:c.635C>T XP_011530721.1:p.Ser212Leu
XM_017008846.1:c.1151C>T XP_016864335.1:p.Ser384Leu
XM_017008847.2:c.1151C>T XP_016864336.1:p.Ser384Leu
XM_017008848.1:c.833C>T XP_016864337.1:p.Ser278Leu
XM_017008849.1:c.635C>T XP_016864338.1:p.Ser212Leu
XM_024454281.1:c.1151C>T XP_024310049.1:p.Ser384Leu
XM_024454282.1:c.1151C>T XP_024310050.1:p.Ser384Leu
XR_001741353.2:n.1491C>T
XR_001741354.2:n.1088C>T
XR_002959772.1:n.1275C>T
XR_938800.1:n.1180C>T
XR_938800.3:n.1491C>T