Canonical Allele Identifier: CA388272224

Gene: TBC1D4

Linked Data

• MyVariant Identifiers: chr13:g.75884118G>C (hg19) ; chr13:g.75309982G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.75309982G>C , CM000675.2:g.75309982G>C	GRCh38
NC_000013.10:g.75884118G>C , CM000675.1:g.75884118G>C	GRCh37
NC_000013.9:g.74782119G>C	NCBI36
NG_042850.1:g.177187C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000377636.8:c.2553C>G MANE Select	ENSP00000366863.3:p.Ile851Met
ENST00000648194.1:c.1821C>G	ENSP00000496983.1:p.Ile607Met
ENST00000377625.6:c.2364C>G	ENSP00000366852.2:p.Ile788Met
ENST00000377636.7:c.2553C>G	ENSP00000366863.3:p.Ile851Met
ENST00000431480.6:c.2529C>G	ENSP00000395986.2:p.Ile843Met
ENST00000493487.1:n.412C>G
NM_001286658.1:c.2529C>G	NP_001273587.1:p.Ile843Met
NM_001286658.2:c.2529C>G	NP_001273587.1:p.Ile843Met
NM_001286659.1:c.2364C>G	NP_001273588.1:p.Ile788Met
NM_001286659.2:c.2364C>G	NP_001273588.1:p.Ile788Met
NM_014832.3:c.2553C>G	NP_055647.2:p.Ile851Met
NM_014832.4:c.2553C>G	NP_055647.2:p.Ile851Met
XM_005266603.1:c.2478C>G	XP_005266660.1:p.Ile826Met
XM_005266605.1:c.2010C>G	XP_005266662.1:p.Ile670Met
XM_006719903.2:c.2079C>G	XP_006719966.1:p.Ile693Met
XM_011535331.1:c.2442C>G	XP_011533633.1:p.Ile814Met
XM_005266603.2:c.2478C>G	XP_005266660.1:p.Ile826Met
XM_005266605.3:c.2010C>G	XP_005266662.1:p.Ile670Met
XM_006719903.3:c.2079C>G	XP_006719966.1:p.Ile693Met
XM_011535331.2:c.2442C>G	XP_011533633.1:p.Ile814Met
XM_017020882.2:c.1821C>G	XP_016876371.1:p.Ile607Met
XM_017020883.2:c.1710C>G	XP_016876372.1:p.Ile570Met
XM_017020884.2:c.120C>G	XP_016876373.1:p.Ile40Met
NM_014832.5:c.2553C>G MANE Select	NP_055647.2:p.Ile851Met