Canonical Allele Identifier: CA214717

Gene: TBC1D4

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.75302253G>A , CM000675.2:g.75302253G>A	GRCh38
NC_000013.10:g.75876389G>A , CM000675.1:g.75876389G>A	GRCh37
NC_000013.9:g.74774390G>A	NCBI36
NG_042850.1:g.184916C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377636.8:c.2901C>T MANE Select	ENSP00000366863.3:p.Leu967=
ENST00000648194.1:c.2169C>T	ENSP00000496983.1:p.Leu723=
ENST00000377625.6:c.2712C>T	ENSP00000366852.2:p.Leu904=
ENST00000377636.7:c.2901C>T	ENSP00000366863.3:p.Leu967=
ENST00000431480.6:c.2877C>T	ENSP00000395986.2:p.Leu959=
ENST00000478591.1:n.355C>T
NM_001286658.1:c.2877C>T	NP_001273587.1:p.Leu959=
NM_001286658.2:c.2877C>T	NP_001273587.1:p.Leu959=
NM_001286659.1:c.2712C>T	NP_001273588.1:p.Leu904=
NM_001286659.2:c.2712C>T	NP_001273588.1:p.Leu904=
NM_014832.3:c.2901C>T	NP_055647.2:p.Leu967=
NM_014832.4:c.2901C>T	NP_055647.2:p.Leu967=
XM_005266603.1:c.2826C>T	XP_005266660.1:p.Leu942=
XM_005266605.1:c.2358C>T	XP_005266662.1:p.Leu786=
XM_006719903.2:c.2427C>T	XP_006719966.1:p.Leu809=
XM_011535331.1:c.2790C>T	XP_011533633.1:p.Leu930=
XM_005266603.2:c.2826C>T	XP_005266660.1:p.Leu942=
XM_005266605.3:c.2358C>T	XP_005266662.1:p.Leu786=
XM_006719903.3:c.2427C>T	XP_006719966.1:p.Leu809=
XM_011535331.2:c.2790C>T	XP_011533633.1:p.Leu930=
XM_017020882.2:c.2169C>T	XP_016876371.1:p.Leu723=
XM_017020883.2:c.2058C>T	XP_016876372.1:p.Leu686=
XM_017020884.2:c.468C>T	XP_016876373.1:p.Leu156=
NM_014832.5:c.2901C>T MANE Select	NP_055647.2:p.Leu967=