Canonical Allele Identifier: CA2640723180

Gene: B3GNTL1 TBCD

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.82942444T>C , CM000679.2:g.82942444T>C	GRCh38
NC_000017.10:g.80900320T>C , CM000679.1:g.80900320T>C	GRCh37
NC_000017.9:g.78493609T>C	NCBI36
NG_011721.1:g.195381T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001009905.3:c.*1630A>G (B3GNTL1) MANE Select	NP_001009905.2:n.*1630A>G
NM_005993.5:c.3565-5T>C (TBCD) MANE Select	NP_005984.3:n.3565-5T>C
ENST00000320865.4:c.*1630A>G (B3GNTL1) MANE Select	ENSP00000319979.4:n.*1630A>G
ENST00000355528.9:c.3565-5T>C (TBCD) MANE Select	ENSP00000347719.4:n.3565-5T>C
NM_001009905.2:c.*1630A>G (B3GNTL1)	NP_001009905.1:n.*1630A>G
NM_001320742.1:c.*1630A>G (B3GNTL1)	NP_001307671.1:n.*1630A>G
NM_001320742.2:c.*1630A>G (B3GNTL1)	NP_001307671.1:n.*1630A>G
NM_001320743.1:c.*1630A>G (B3GNTL1)	NP_001307672.1:n.*1630A>G
NM_001320743.2:c.*1630A>G (B3GNTL1)	NP_001307672.1:n.*1630A>G
NM_005993.4:c.3565-5T>C (TBCD)	NP_005984.3:n.3565-5T>C
NR_135465.1:n.3085A>G (B3GNTL1)
NR_135465.2:n.3045A>G (B3GNTL1)
NR_135466.1:n.2157A>G (B3GNTL1)
NR_135466.2:n.2166A>G (B3GNTL1)
ENST00000355528.8:c.3565-5T>C (TBCD)	ENSP00000347719.4:n.3565-5T>C
ENST00000539345.6:c.3679-5T>C (TBCD)	ENSP00000440671.2:n.3679-5T>C
ENST00000572389.1:n.521-5T>C (TBCD)
ENST00000572794.1:c.1122T>C (TBCD)
ENST00000572977.5:c.*471A>G (B3GNTL1)	ENSP00000459327.1:n.*471A>G
ENST00000574886.2:n.2893-5T>C (TBCD)
ENST00000576432.5:n.429-5T>C (TBCD)
ENST00000576603.5:n.643-5T>C (TBCD)
ENST00000576677.5:n.1671-5T>C (TBCD)
ENST00000576677.6:n.3715-5T>C (TBCD)
ENST00000576691.5:n.674-5T>C (TBCD)
ENST00000577051.1:c.769-5T>C (TBCD)	ENSP00000458512.1:n.769-5T>C
ENST00000681983.1:n.4722-5T>C (TBCD)
ENST00000682099.1:n.2462-5T>C (TBCD)
ENST00000682213.1:c.*1536-5T>C (TBCD)	ENSP00000508166.1:n.*1536-5T>C
ENST00000682315.1:c.1879-5T>C (TBCD)	ENSP00000507232.1:n.1879-5T>C
ENST00000682479.1:c.3655-5T>C (TBCD)	ENSP00000508214.1:n.3655-5T>C
ENST00000682610.1:n.2805-5T>C (TBCD)
ENST00000682654.1:c.*1536-5T>C (TBCD)	ENSP00000507412.1:n.*1536-5T>C
ENST00000682722.1:c.3514-5T>C (TBCD)	ENSP00000508364.1:n.3514-5T>C
ENST00000683041.1:c.*1536-5T>C (TBCD)	ENSP00000506994.1:n.*1536-5T>C
ENST00000683184.1:c.*3218-5T>C (TBCD)	ENSP00000507757.1:n.*3218-5T>C
ENST00000683282.1:c.3481-5T>C (TBCD)	ENSP00000506913.1:n.3481-5T>C
ENST00000683444.1:c.*3142-5T>C (TBCD)	ENSP00000507553.1:n.*3142-5T>C
ENST00000683584.1:n.2388-5T>C (TBCD)
ENST00000683821.1:c.1879-5T>C (TBCD)	ENSP00000507651.1:n.1879-5T>C
ENST00000683839.1:n.3019-5T>C (TBCD)
ENST00000683883.1:n.337-5T>C (TBCD)
ENST00000684000.1:c.3649-5T>C (TBCD)	ENSP00000506795.1:n.3649-5T>C
ENST00000684188.1:c.3376-5T>C (TBCD)	ENSP00000507153.1:n.3376-5T>C
ENST00000684349.1:c.3751-5T>C (TBCD)	ENSP00000508067.1:n.3751-5T>C
ENST00000684361.1:c.*922-5T>C (TBCD)	ENSP00000507364.1:n.*922-5T>C
ENST00000684408.1:c.3208-5T>C (TBCD)	ENSP00000506837.1:n.3208-5T>C
ENST00000684429.1:c.3493-5T>C (TBCD)	ENSP00000507224.1:n.3493-5T>C
ENST00000684464.1:c.3658-5T>C (TBCD)	ENSP00000508333.1:n.3658-5T>C
ENST00000684544.1:c.3484-5T>C (TBCD)	ENSP00000507337.1:n.3484-5T>C
ENST00000684559.1:n.2320-5T>C (TBCD)
ENST00000684760.1:c.3832-5T>C (TBCD)	ENSP00000507696.1:n.3832-5T>C
ENST00000684776.1:c.*2048-5T>C (TBCD)	ENSP00000507861.1:n.*2048-5T>C
XM_005256396.3:c.3514-5T>C (TBCD)	XP_005256453.1:n.3514-5T>C
XM_005256396.4:c.3514-5T>C (TBCD)	XP_005256453.1:n.3514-5T>C
XM_005256399.3:c.2281-5T>C (TBCD)	XP_005256456.1:n.2281-5T>C
XM_005256399.5:c.2281-5T>C (TBCD)	XP_005256456.1:n.2281-5T>C
XM_005256400.3:c.1879-5T>C (TBCD)	XP_005256457.1:n.1879-5T>C
XM_005256401.3:c.1879-5T>C (TBCD)	XP_005256458.1:n.1879-5T>C
XM_005256402.3:c.1879-5T>C (TBCD)	XP_005256459.1:n.1879-5T>C
XM_005256403.3:c.1879-5T>C (TBCD)	XP_005256460.1:n.1879-5T>C
XM_005256404.3:c.1879-5T>C (TBCD)	XP_005256461.1:n.1879-5T>C
XM_005256404.4:c.1879-5T>C (TBCD)	XP_005256461.1:n.1879-5T>C
XM_006722272.2:c.*1656A>G (B3GNTL1)	XP_006722335.1:n.*1656A>G
XM_006722290.2:c.3484-5T>C (TBCD)	XP_006722353.1:n.3484-5T>C
XM_006722291.2:c.2269-5T>C (TBCD)	XP_006722354.1:n.2269-5T>C
XM_006722291.4:c.2269-5T>C (TBCD)	XP_006722354.1:n.2269-5T>C
XM_006722292.2:c.1879-5T>C (TBCD)	XP_006722355.1:n.1879-5T>C
XM_006722292.3:c.1879-5T>C (TBCD)	XP_006722355.1:n.1879-5T>C
XM_011523589.1:c.3220-5T>C (TBCD)	XP_011521891.1:n.3220-5T>C
XM_011523589.2:c.3220-5T>C (TBCD)	XP_011521891.1:n.3220-5T>C
XM_011523590.1:c.3208-5T>C (TBCD)	XP_011521892.1:n.3208-5T>C
XM_011523591.1:c.3205-5T>C (TBCD)	XP_011521893.1:n.3205-5T>C
XM_011523591.2:c.3205-5T>C (TBCD)	XP_011521893.1:n.3205-5T>C
XM_011523592.1:c.3118-5T>C (TBCD)	XP_011521894.1:n.3118-5T>C
XM_011523593.1:c.2812-5T>C (TBCD)	XP_011521895.1:n.2812-5T>C
XM_011523593.2:c.2812-5T>C (TBCD)	XP_011521895.1:n.2812-5T>C
XM_011523594.1:c.2293-5T>C (TBCD)	XP_011521896.1:n.2293-5T>C
XM_011523594.2:c.2293-5T>C (TBCD)	XP_011521896.1:n.2293-5T>C
XM_011523595.1:c.2260-5T>C (TBCD)	XP_011521897.1:n.2260-5T>C
XM_011523595.3:c.2260-5T>C (TBCD)	XP_011521897.1:n.2260-5T>C
XM_011523597.1:c.2026-5T>C (TBCD)	XP_011521899.1:n.2026-5T>C
XM_011523597.2:c.2026-5T>C (TBCD)	XP_011521899.1:n.2026-5T>C
XM_011523598.1:c.2023-5T>C (TBCD)	XP_011521900.1:n.2023-5T>C
XM_011523599.1:c.2017-5T>C (TBCD)	XP_011521901.1:n.2017-5T>C
XM_011523599.2:c.2017-5T>C (TBCD)	XP_011521901.1:n.2017-5T>C
XM_011523600.1:c.1879-5T>C (TBCD)	XP_011521902.1:n.1879-5T>C
XM_011523600.3:c.1879-5T>C (TBCD)	XP_011521902.1:n.1879-5T>C
XM_017024987.1:c.3376-5T>C (TBCD)	XP_016880476.1:n.3376-5T>C
XM_017024989.1:c.1927-5T>C (TBCD)	XP_016880478.1:n.1927-5T>C
XM_017024990.2:c.1879-5T>C (TBCD)	XP_016880479.1:n.1879-5T>C
XM_024450899.1:c.1879-5T>C (TBCD)	XP_024306667.1:n.1879-5T>C
XM_024450900.1:c.1879-5T>C (TBCD)	XP_024306668.1:n.1879-5T>C
XM_024450901.1:c.1879-5T>C (TBCD)	XP_024306669.1:n.1879-5T>C
XM_024450902.1:c.1879-5T>C (TBCD)	XP_024306670.1:n.1879-5T>C
XR_001752429.1:n.2229A>G (B3GNTL1)
XR_001752597.1:n.3793-5T>C (TBCD)
XR_001752598.1:n.4051-5T>C (TBCD)
XR_001752599.1:n.4171-5T>C (TBCD)
XR_001752600.1:n.4612-5T>C (TBCD)
XR_430033.2:n.3585-5T>C (TBCD)
XR_933925.1:n.2090A>G (B3GNTL1)
XR_933926.1:n.3120A>G (B3GNTL1)
XR_933928.1:n.2904A>G (B3GNTL1)