Canonical Allele Identifier: CA388264452

Gene: TBC1D4

Linked Data

• MyVariant Identifiers: chr13:g.75861063T>G (hg19) ; chr13:g.75286927T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.75286927T>G , CM000675.2:g.75286927T>G	GRCh38
NC_000013.10:g.75861063T>G , CM000675.1:g.75861063T>G	GRCh37
NC_000013.9:g.74759064T>G	NCBI36
NG_042850.1:g.200242A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377636.8:c.3762A>C MANE Select	ENSP00000366863.3:p.Glu1254Asp
ENST00000648194.1:c.3030A>C	ENSP00000496983.1:p.Glu1010Asp
ENST00000377625.6:c.3573A>C	ENSP00000366852.2:p.Glu1191Asp
ENST00000377636.7:c.3762A>C	ENSP00000366863.3:p.Glu1254Asp
ENST00000431480.6:c.3738A>C	ENSP00000395986.2:p.Glu1246Asp
NM_001286658.1:c.3738A>C	NP_001273587.1:p.Glu1246Asp
NM_001286658.2:c.3738A>C	NP_001273587.1:p.Glu1246Asp
NM_001286659.1:c.3573A>C	NP_001273588.1:p.Glu1191Asp
NM_001286659.2:c.3573A>C	NP_001273588.1:p.Glu1191Asp
NM_014832.3:c.3762A>C	NP_055647.2:p.Glu1254Asp
NM_014832.4:c.3762A>C	NP_055647.2:p.Glu1254Asp
XM_005266603.1:c.3687A>C	XP_005266660.1:p.Glu1229Asp
XM_005266605.1:c.3219A>C	XP_005266662.1:p.Glu1073Asp
XM_006719903.2:c.3288A>C	XP_006719966.1:p.Glu1096Asp
XM_011535331.1:c.3651A>C	XP_011533633.1:p.Glu1217Asp
XM_005266603.2:c.3687A>C	XP_005266660.1:p.Glu1229Asp
XM_005266605.3:c.3219A>C	XP_005266662.1:p.Glu1073Asp
XM_006719903.3:c.3288A>C	XP_006719966.1:p.Glu1096Asp
XM_011535331.2:c.3651A>C	XP_011533633.1:p.Glu1217Asp
XM_017020882.2:c.3030A>C	XP_016876371.1:p.Glu1010Asp
XM_017020883.2:c.2919A>C	XP_016876372.1:p.Glu973Asp
XM_017020884.2:c.1329A>C	XP_016876373.1:p.Glu443Asp
NM_014832.5:c.3762A>C MANE Select	NP_055647.2:p.Glu1254Asp