Canonical Allele Identifier: CA7003684

Gene: TBC1D4

Linked Data

• dbSNP Id: rs752692730
• ExAC: 13:75884138 T / C
• gnomAD v2: 13-75884138-T-C
• gnomAD v4: 13-75310002-T-C
• MyVariant Identifiers: chr13:g.75884138T>C (hg19) ; chr13:g.75310002T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.75310002T>C , CM000675.2:g.75310002T>C	GRCh38
NC_000013.10:g.75884138T>C , CM000675.1:g.75884138T>C	GRCh37
NC_000013.9:g.74782139T>C	NCBI36
NG_042850.1:g.177167A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377636.8:c.2533A>G MANE Select	ENSP00000366863.3:p.Lys845Glu
ENST00000648194.1:c.1801A>G	ENSP00000496983.1:p.Lys601Glu
ENST00000377625.6:c.2344A>G	ENSP00000366852.2:p.Lys782Glu
ENST00000377636.7:c.2533A>G	ENSP00000366863.3:p.Lys845Glu
ENST00000431480.6:c.2509A>G	ENSP00000395986.2:p.Lys837Glu
ENST00000493487.1:n.392A>G
NM_001286658.1:c.2509A>G	NP_001273587.1:p.Lys837Glu
NM_001286658.2:c.2509A>G	NP_001273587.1:p.Lys837Glu
NM_001286659.1:c.2344A>G	NP_001273588.1:p.Lys782Glu
NM_001286659.2:c.2344A>G	NP_001273588.1:p.Lys782Glu
NM_014832.3:c.2533A>G	NP_055647.2:p.Lys845Glu
NM_014832.4:c.2533A>G	NP_055647.2:p.Lys845Glu
XM_005266603.1:c.2458A>G	XP_005266660.1:p.Lys820Glu
XM_005266605.1:c.1990A>G	XP_005266662.1:p.Lys664Glu
XM_006719903.2:c.2059A>G	XP_006719966.1:p.Lys687Glu
XM_011535331.1:c.2422A>G	XP_011533633.1:p.Lys808Glu
XM_005266603.2:c.2458A>G	XP_005266660.1:p.Lys820Glu
XM_005266605.3:c.1990A>G	XP_005266662.1:p.Lys664Glu
XM_006719903.3:c.2059A>G	XP_006719966.1:p.Lys687Glu
XM_011535331.2:c.2422A>G	XP_011533633.1:p.Lys808Glu
XM_017020882.2:c.1801A>G	XP_016876371.1:p.Lys601Glu
XM_017020883.2:c.1690A>G	XP_016876372.1:p.Lys564Glu
XM_017020884.2:c.100A>G	XP_016876373.1:p.Lys34Glu
NM_014832.5:c.2533A>G MANE Select	NP_055647.2:p.Lys845Glu