Canonical Allele Identifier: CA388272214

Gene: TBC1D4

Linked Data

• MyVariant Identifiers: chr13:g.75884116A>T (hg19) ; chr13:g.75309980A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.75309980A>T , CM000675.2:g.75309980A>T	GRCh38
NC_000013.10:g.75884116A>T , CM000675.1:g.75884116A>T	GRCh37
NC_000013.9:g.74782117A>T	NCBI36
NG_042850.1:g.177189T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000377636.8:c.2555T>A MANE Select	ENSP00000366863.3:p.Leu852Ter
ENST00000648194.1:c.1823T>A	ENSP00000496983.1:p.Leu608Ter
ENST00000377625.6:c.2366T>A	ENSP00000366852.2:p.Leu789Ter
ENST00000377636.7:c.2555T>A	ENSP00000366863.3:p.Leu852Ter
ENST00000431480.6:c.2531T>A	ENSP00000395986.2:p.Leu844Ter
ENST00000493487.1:n.414T>A
NM_001286658.1:c.2531T>A	NP_001273587.1:p.Leu844Ter
NM_001286658.2:c.2531T>A	NP_001273587.1:p.Leu844Ter
NM_001286659.1:c.2366T>A	NP_001273588.1:p.Leu789Ter
NM_001286659.2:c.2366T>A	NP_001273588.1:p.Leu789Ter
NM_014832.3:c.2555T>A	NP_055647.2:p.Leu852Ter
NM_014832.4:c.2555T>A	NP_055647.2:p.Leu852Ter
XM_005266603.1:c.2480T>A	XP_005266660.1:p.Leu827Ter
XM_005266605.1:c.2012T>A	XP_005266662.1:p.Leu671Ter
XM_006719903.2:c.2081T>A	XP_006719966.1:p.Leu694Ter
XM_011535331.1:c.2444T>A	XP_011533633.1:p.Leu815Ter
XM_005266603.2:c.2480T>A	XP_005266660.1:p.Leu827Ter
XM_005266605.3:c.2012T>A	XP_005266662.1:p.Leu671Ter
XM_006719903.3:c.2081T>A	XP_006719966.1:p.Leu694Ter
XM_011535331.2:c.2444T>A	XP_011533633.1:p.Leu815Ter
XM_017020882.2:c.1823T>A	XP_016876371.1:p.Leu608Ter
XM_017020883.2:c.1712T>A	XP_016876372.1:p.Leu571Ter
XM_017020884.2:c.122T>A	XP_016876373.1:p.Leu41Ter
NM_014832.5:c.2555T>A MANE Select	NP_055647.2:p.Leu852Ter