Canonical Allele Identifier: CA502586138

Gene: TBCD

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.82752331G>T , CM000679.2:g.82752331G>T	GRCh38
NC_000017.10:g.80710207G>T , CM000679.1:g.80710207G>T	GRCh37
NC_000017.9:g.78303496G>T	NCBI36
NG_011721.1:g.5268G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681983.1:n.274G>T
ENST00000682107.1:n.258G>T
ENST00000682213.1:c.138G>T	ENSP00000508166.1:p.Val46=
ENST00000682479.1:c.138G>T	ENSP00000508214.1:p.Val46=
ENST00000682722.1:c.138G>T	ENSP00000508364.1:p.Val46=
ENST00000682921.1:n.258G>T
ENST00000683009.1:n.258G>T
ENST00000683041.1:c.138G>T	ENSP00000506994.1:p.Val46=
ENST00000683184.1:c.138G>T	ENSP00000507757.1:p.Val46=
ENST00000683282.1:c.138G>T	ENSP00000506913.1:p.Val46=
ENST00000683444.1:c.138G>T	ENSP00000507553.1:p.Val46=
ENST00000684000.1:c.138G>T	ENSP00000506795.1:p.Val46=
ENST00000684349.1:c.138G>T	ENSP00000508067.1:p.Val46=
ENST00000684361.1:c.138G>T	ENSP00000507364.1:p.Val46=
ENST00000684408.1:c.138G>T	ENSP00000506837.1:p.Val46=
ENST00000684464.1:c.138G>T	ENSP00000508333.1:p.Val46=
ENST00000684544.1:c.138G>T	ENSP00000507337.1:p.Val46=
ENST00000684760.1:c.138G>T	ENSP00000507696.1:p.Val46=
ENST00000684776.1:c.138G>T	ENSP00000507861.1:p.Val46=
ENST00000355528.9:c.138G>T MANE Select	ENSP00000347719.4:p.Val46=
ENST00000355528.8:c.138G>T	ENSP00000347719.4:p.Val46=
ENST00000539345.6:c.138G>T	ENSP00000440671.2:p.Val46=
NM_005993.4:c.138G>T	NP_005984.3:p.Val46=
XM_005256396.3:c.138G>T	XP_005256453.1:p.Val46=
XM_006722290.2:c.138G>T	XP_006722353.1:p.Val46=
XM_011523590.1:c.138G>T	XP_011521892.1:p.Val46=
XM_011523596.1:c.138G>T	XP_011521898.1:p.Val46=
XR_430033.2:n.246G>T
XM_005256396.4:c.138G>T	XP_005256453.1:p.Val46=
XM_017024988.1:c.138G>T	XP_016880477.1:p.Val46=
XR_001752597.1:n.246G>T
XR_001752598.1:n.246G>T
XR_001752599.1:n.246G>T
XR_001752600.1:n.246G>T
NM_005993.5:c.138G>T MANE Select	NP_005984.3:p.Val46=