Canonical Allele Identifier: CA12235014

Gene: TTBK1

Linked Data

• dbSNP Id: rs2651206
• gnomAD v2: 6-43213477-C-T
• gnomAD v3: 6-43245739-C-T
• gnomAD v4: 6-43245739-C-T
• MyVariant Identifiers: chr6:g.43213477C>T (hg19) ; chr6:g.43245739C>T (hg38)

Genomic Alleles

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

Transcript Alleles

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