Canonical Allele Identifier: CA388272291

Gene: TBC1D4

Linked Data

• MyVariant Identifiers: chr13:g.75884128T>A (hg19) ; chr13:g.75309992T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.75309992T>A , CM000675.2:g.75309992T>A	GRCh38
NC_000013.10:g.75884128T>A , CM000675.1:g.75884128T>A	GRCh37
NC_000013.9:g.74782129T>A	NCBI36
NG_042850.1:g.177177A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000377636.8:c.2543A>T MANE Select	ENSP00000366863.3:p.His848Leu
ENST00000648194.1:c.1811A>T	ENSP00000496983.1:p.His604Leu
ENST00000377625.6:c.2354A>T	ENSP00000366852.2:p.His785Leu
ENST00000377636.7:c.2543A>T	ENSP00000366863.3:p.His848Leu
ENST00000431480.6:c.2519A>T	ENSP00000395986.2:p.His840Leu
ENST00000493487.1:n.402A>T
NM_001286658.1:c.2519A>T	NP_001273587.1:p.His840Leu
NM_001286658.2:c.2519A>T	NP_001273587.1:p.His840Leu
NM_001286659.1:c.2354A>T	NP_001273588.1:p.His785Leu
NM_001286659.2:c.2354A>T	NP_001273588.1:p.His785Leu
NM_014832.3:c.2543A>T	NP_055647.2:p.His848Leu
NM_014832.4:c.2543A>T	NP_055647.2:p.His848Leu
XM_005266603.1:c.2468A>T	XP_005266660.1:p.His823Leu
XM_005266605.1:c.2000A>T	XP_005266662.1:p.His667Leu
XM_006719903.2:c.2069A>T	XP_006719966.1:p.His690Leu
XM_011535331.1:c.2432A>T	XP_011533633.1:p.His811Leu
XM_005266603.2:c.2468A>T	XP_005266660.1:p.His823Leu
XM_005266605.3:c.2000A>T	XP_005266662.1:p.His667Leu
XM_006719903.3:c.2069A>T	XP_006719966.1:p.His690Leu
XM_011535331.2:c.2432A>T	XP_011533633.1:p.His811Leu
XM_017020882.2:c.1811A>T	XP_016876371.1:p.His604Leu
XM_017020883.2:c.1700A>T	XP_016876372.1:p.His567Leu
XM_017020884.2:c.110A>T	XP_016876373.1:p.His37Leu
NM_014832.5:c.2543A>T MANE Select	NP_055647.2:p.His848Leu