Canonical Allele Identifier: CA14458248

Gene: TBCD ZNF750

Linked Data - Predicted Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.82832566T>G , CM000679.2:g.82832566T>G	GRCh38
NC_000017.10:g.80790442T>G , CM000679.1:g.80790442T>G	GRCh37
NC_000017.9:g.78383731T>G	NCBI36
NG_011604.1:g.12490A>C
NG_011721.1:g.85503T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681983.1:n.1454+17632T>G (TBCD)
ENST00000682213.1:c.1318+17632T>G (TBCD)	ENSP00000508166.1:n.1318+17632T>G
ENST00000682479.1:c.1408+17632T>G (TBCD)	ENSP00000508214.1:n.1408+17632T>G
ENST00000682610.1:n.558+17632T>G (TBCD)
ENST00000682722.1:c.1267+17632T>G (TBCD)	ENSP00000508364.1:n.1267+17632T>G
ENST00000682921.1:n.1240+17632T>G (TBCD)
ENST00000683009.1:n.1438+17632T>G (TBCD)
ENST00000683041.1:c.1318+17632T>G (TBCD)	ENSP00000506994.1:n.1318+17632T>G
ENST00000683184.1:c.*971+17632T>G (TBCD)	ENSP00000507757.1:n.*971+17632T>G
ENST00000683282.1:c.1318+17632T>G (TBCD)	ENSP00000506913.1:n.1318+17632T>G
ENST00000683444.1:c.*895+17632T>G (TBCD)	ENSP00000507553.1:n.*895+17632T>G
ENST00000683821.1:c.-369+1849T>G (TBCD)	ENSP00000507651.1:n.-369+1849T>G
ENST00000684000.1:c.1402+17632T>G (TBCD)	ENSP00000506795.1:n.1402+17632T>G
ENST00000684188.1:c.1129+17632T>G (TBCD)	ENSP00000507153.1:n.1129+17632T>G
ENST00000684349.1:c.1318+17632T>G (TBCD)	ENSP00000508067.1:n.1318+17632T>G
ENST00000684361.1:c.1318+17632T>G (TBCD)	ENSP00000507364.1:n.1318+17632T>G
ENST00000684408.1:c.1318+17632T>G (TBCD)	ENSP00000506837.1:n.1318+17632T>G
ENST00000684429.1:c.1246+17632T>G (TBCD)	ENSP00000507224.1:n.1246+17632T>G
ENST00000684464.1:c.1318+17632T>G (TBCD)	ENSP00000508333.1:n.1318+17632T>G
ENST00000684544.1:c.1318+17632T>G (TBCD)	ENSP00000507337.1:n.1318+17632T>G
ENST00000684760.1:c.1318+17632T>G (TBCD)	ENSP00000507696.1:n.1318+17632T>G
ENST00000684776.1:c.1223+22784T>G (TBCD)	ENSP00000507861.1:n.1223+22784T>G
ENST00000269394.4:c.-112A>C (ZNF750) MANE Select	ENSP00000269394.3:n.-112A>C
ENST00000355528.9:c.1318+17632T>G (TBCD) MANE Select	ENSP00000347719.4:n.1318+17632T>G
ENST00000269394.3:c.-112A>C (ZNF750)	ENSP00000269394.3:n.-112A>C
ENST00000355528.8:c.1318+17632T>G (TBCD)	ENSP00000347719.4:n.1318+17632T>G
ENST00000539345.6:c.1318+17632T>G (TBCD)	ENSP00000440671.2:n.1318+17632T>G
ENST00000572562.1:c.-229-1080A>C (ZNF750)	ENSP00000458389.1:n.-229-1080A>C
NM_005993.4:c.1318+17632T>G (TBCD)	NP_005984.3:n.1318+17632T>G
NM_024702.2:c.-112A>C (ZNF750)	NP_078978.2:n.-112A>C
XM_005256396.3:c.1267+17632T>G (TBCD)	XP_005256453.1:n.1267+17632T>G
XM_005256401.3:c.-369+1849T>G (TBCD)	XP_005256458.1:n.-369+1849T>G
XM_006722290.2:c.1318+17632T>G (TBCD)	XP_006722353.1:n.1318+17632T>G
XM_011523589.1:c.973+17632T>G (TBCD)	XP_011521891.1:n.973+17632T>G
XM_011523590.1:c.1318+17632T>G (TBCD)	XP_011521892.1:n.1318+17632T>G
XM_011523591.1:c.958+17632T>G (TBCD)	XP_011521893.1:n.958+17632T>G
XM_011523592.1:c.871+17632T>G (TBCD)	XP_011521894.1:n.871+17632T>G
XM_011523593.1:c.565+17632T>G (TBCD)	XP_011521895.1:n.565+17632T>G
XM_011523596.1:c.1318+17632T>G (TBCD)	XP_011521898.1:n.1318+17632T>G
XR_430033.2:n.1426+17632T>G (TBCD)
XM_005256396.4:c.1267+17632T>G (TBCD)	XP_005256453.1:n.1267+17632T>G
XM_011523589.2:c.973+17632T>G (TBCD)	XP_011521891.1:n.973+17632T>G
XM_011523591.2:c.958+17632T>G (TBCD)	XP_011521893.1:n.958+17632T>G
XM_011523593.2:c.565+17632T>G (TBCD)	XP_011521895.1:n.565+17632T>G
XM_017024987.1:c.1129+17632T>G (TBCD)	XP_016880476.1:n.1129+17632T>G
XM_017024988.1:c.1318+17632T>G (TBCD)	XP_016880477.1:n.1318+17632T>G
XM_017024990.2:c.-369+17542T>G (TBCD)	XP_016880479.1:n.-369+17542T>G
XM_024450901.1:c.-369+1849T>G (TBCD)	XP_024306669.1:n.-369+1849T>G
XR_001752597.1:n.1426+17632T>G (TBCD)
XR_001752598.1:n.1426+17632T>G (TBCD)
XR_001752599.1:n.1426+17632T>G (TBCD)
XR_001752600.1:n.1426+17632T>G (TBCD)
NM_005993.5:c.1318+17632T>G (TBCD) MANE Select	NP_005984.3:n.1318+17632T>G
NM_024702.3:c.-112A>C (ZNF750) MANE Select	NP_078978.2:n.-112A>C