Canonical Allele Identifier: CA388272240

Gene: TBC1D4

Linked Data

• MyVariant Identifiers: chr13:g.75884120T>A (hg19) ; chr13:g.75309984T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.75309984T>A , CM000675.2:g.75309984T>A	GRCh38
NC_000013.10:g.75884120T>A , CM000675.1:g.75884120T>A	GRCh37
NC_000013.9:g.74782121T>A	NCBI36
NG_042850.1:g.177185A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000377636.8:c.2551A>T MANE Select	ENSP00000366863.3:p.Ile851Phe
ENST00000648194.1:c.1819A>T	ENSP00000496983.1:p.Ile607Phe
ENST00000377625.6:c.2362A>T	ENSP00000366852.2:p.Ile788Phe
ENST00000377636.7:c.2551A>T	ENSP00000366863.3:p.Ile851Phe
ENST00000431480.6:c.2527A>T	ENSP00000395986.2:p.Ile843Phe
ENST00000493487.1:n.410A>T
NM_001286658.1:c.2527A>T	NP_001273587.1:p.Ile843Phe
NM_001286658.2:c.2527A>T	NP_001273587.1:p.Ile843Phe
NM_001286659.1:c.2362A>T	NP_001273588.1:p.Ile788Phe
NM_001286659.2:c.2362A>T	NP_001273588.1:p.Ile788Phe
NM_014832.3:c.2551A>T	NP_055647.2:p.Ile851Phe
NM_014832.4:c.2551A>T	NP_055647.2:p.Ile851Phe
XM_005266603.1:c.2476A>T	XP_005266660.1:p.Ile826Phe
XM_005266605.1:c.2008A>T	XP_005266662.1:p.Ile670Phe
XM_006719903.2:c.2077A>T	XP_006719966.1:p.Ile693Phe
XM_011535331.1:c.2440A>T	XP_011533633.1:p.Ile814Phe
XM_005266603.2:c.2476A>T	XP_005266660.1:p.Ile826Phe
XM_005266605.3:c.2008A>T	XP_005266662.1:p.Ile670Phe
XM_006719903.3:c.2077A>T	XP_006719966.1:p.Ile693Phe
XM_011535331.2:c.2440A>T	XP_011533633.1:p.Ile814Phe
XM_017020882.2:c.1819A>T	XP_016876371.1:p.Ile607Phe
XM_017020883.2:c.1708A>T	XP_016876372.1:p.Ile570Phe
XM_017020884.2:c.118A>T	XP_016876373.1:p.Ile40Phe
NM_014832.5:c.2551A>T MANE Select	NP_055647.2:p.Ile851Phe