Canonical Allele Identifier: CA3819677

Gene: TTBK1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43263232G>C , CM000668.2:g.43263232G>C	GRCh38
NC_000006.11:g.43230970G>C , CM000668.1:g.43230970G>C	GRCh37
NC_000006.10:g.43338948G>C	NCBI36
NG_051244.1:g.24553G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703836.1:c.1868G>C	ENSP00000515493.1:p.Gly623Ala
ENST00000259750.9:c.1868G>C MANE Select	ENSP00000259750.4:p.Gly623Ala
ENST00000304139.6:c.1715G>C	ENSP00000307357.6:p.Gly572Ala
ENST00000259750.8:c.1868G>C	ENSP00000259750.4:p.Gly623Ala
ENST00000304139.5:c.1715G>C	ENSP00000307357.5:p.Gly572Ala
NM_032538.1:c.1868G>C	NP_115927.1:p.Gly623Ala
XM_011514945.1:c.1985G>C	XP_011513247.1:p.Gly662Ala
XM_011514946.1:c.1961G>C	XP_011513248.1:p.Gly654Ala
XM_011514947.1:c.1892G>C	XP_011513249.1:p.Gly631Ala
NM_032538.2:c.1868G>C	NP_115927.1:p.Gly623Ala
XM_011514947.2:c.1892G>C	XP_011513249.1:p.Gly631Ala
XM_017011364.1:c.2129G>C	XP_016866853.1:p.Gly710Ala
XM_017011365.1:c.2129G>C	XP_016866854.1:p.Gly710Ala
XM_017011366.1:c.1868G>C	XP_016866855.1:p.Gly623Ala
XM_017011367.1:c.2129G>C	XP_016866856.1:p.Gly710Ala
NM_032538.3:c.1868G>C MANE Select	NP_115927.1:p.Gly623Ala