Canonical Allele Identifier: CA1624430395
Community Standard Title: NM_032538.3(TTBK1):c.-54-868C=
Gene: TTBK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.43245739C= , CM000668.2:g.43245739C= GRCh38
NC_000006.11:g.43213477C= , CM000668.1:g.43213477C= GRCh37
NC_000006.10:g.43321455C= NCBI36
NG_051244.1:g.7060C=

Transcript Alleles

HGVS Amino-acid Change
NM_032538.3:c.-54-868C= MANE Select NP_115927.1:n.-54-868C=
ENST00000259750.9:c.-54-868C= MANE Select ENSP00000259750.4:n.-54-868C=
NM_032538.1:c.-54-868C= NP_115927.1:n.-54-868C=
NM_032538.2:c.-54-868C= NP_115927.1:n.-54-868C=
ENST00000259750.8:c.-54-868C= ENSP00000259750.4:n.-54-868C=
XM_011514945.1:c.39+547C= XP_011513247.1:n.39+547C=
XM_011514946.1:c.39+547C= XP_011513248.1:n.39+547C=
XM_011514947.1:c.-54-868C= XP_011513249.1:n.-54-868C=
XM_011514947.2:c.-54-868C= XP_011513249.1:n.-54-868C=
XM_017011364.1:c.-54-868C= XP_016866853.1:n.-54-868C=
XM_017011365.1:c.-54-868C= XP_016866854.1:n.-54-868C=
XM_017011366.1:c.-54-868C= XP_016866855.1:n.-54-868C=
XM_017011367.1:c.-54-868C= XP_016866856.1:n.-54-868C=