Canonical Allele Identifier: CA388272322

Gene: TBC1D4

Linked Data

• MyVariant Identifiers: chr13:g.75884132T>G (hg19) ; chr13:g.75309996T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.75309996T>G , CM000675.2:g.75309996T>G	GRCh38
NC_000013.10:g.75884132T>G , CM000675.1:g.75884132T>G	GRCh37
NC_000013.9:g.74782133T>G	NCBI36
NG_042850.1:g.177173A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000377636.8:c.2539A>C MANE Select	ENSP00000366863.3:p.Ile847Leu
ENST00000648194.1:c.1807A>C	ENSP00000496983.1:p.Ile603Leu
ENST00000377625.6:c.2350A>C	ENSP00000366852.2:p.Ile784Leu
ENST00000377636.7:c.2539A>C	ENSP00000366863.3:p.Ile847Leu
ENST00000431480.6:c.2515A>C	ENSP00000395986.2:p.Ile839Leu
ENST00000493487.1:n.398A>C
NM_001286658.1:c.2515A>C	NP_001273587.1:p.Ile839Leu
NM_001286658.2:c.2515A>C	NP_001273587.1:p.Ile839Leu
NM_001286659.1:c.2350A>C	NP_001273588.1:p.Ile784Leu
NM_001286659.2:c.2350A>C	NP_001273588.1:p.Ile784Leu
NM_014832.3:c.2539A>C	NP_055647.2:p.Ile847Leu
NM_014832.4:c.2539A>C	NP_055647.2:p.Ile847Leu
XM_005266603.1:c.2464A>C	XP_005266660.1:p.Ile822Leu
XM_005266605.1:c.1996A>C	XP_005266662.1:p.Ile666Leu
XM_006719903.2:c.2065A>C	XP_006719966.1:p.Ile689Leu
XM_011535331.1:c.2428A>C	XP_011533633.1:p.Ile810Leu
XM_005266603.2:c.2464A>C	XP_005266660.1:p.Ile822Leu
XM_005266605.3:c.1996A>C	XP_005266662.1:p.Ile666Leu
XM_006719903.3:c.2065A>C	XP_006719966.1:p.Ile689Leu
XM_011535331.2:c.2428A>C	XP_011533633.1:p.Ile810Leu
XM_017020882.2:c.1807A>C	XP_016876371.1:p.Ile603Leu
XM_017020883.2:c.1696A>C	XP_016876372.1:p.Ile566Leu
XM_017020884.2:c.106A>C	XP_016876373.1:p.Ile36Leu
NM_014832.5:c.2539A>C MANE Select	NP_055647.2:p.Ile847Leu