Canonical Allele Identifier: CA388272247

Gene: TBC1D4

Linked Data

• dbSNP Id: rs1245424549
• gnomAD v3: 13-75309986-T-A
• gnomAD v4: 13-75309986-T-A
• MyVariant Identifiers: chr13:g.75884122T>A (hg19) ; chr13:g.75309986T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.75309986T>A , CM000675.2:g.75309986T>A	GRCh38
NC_000013.10:g.75884122T>A , CM000675.1:g.75884122T>A	GRCh37
NC_000013.9:g.74782123T>A	NCBI36
NG_042850.1:g.177183A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000377636.8:c.2549A>T MANE Select	ENSP00000366863.3:p.Gln850Leu
ENST00000648194.1:c.1817A>T	ENSP00000496983.1:p.Gln606Leu
ENST00000377625.6:c.2360A>T	ENSP00000366852.2:p.Gln787Leu
ENST00000377636.7:c.2549A>T	ENSP00000366863.3:p.Gln850Leu
ENST00000431480.6:c.2525A>T	ENSP00000395986.2:p.Gln842Leu
ENST00000493487.1:n.408A>T
NM_001286658.1:c.2525A>T	NP_001273587.1:p.Gln842Leu
NM_001286658.2:c.2525A>T	NP_001273587.1:p.Gln842Leu
NM_001286659.1:c.2360A>T	NP_001273588.1:p.Gln787Leu
NM_001286659.2:c.2360A>T	NP_001273588.1:p.Gln787Leu
NM_014832.3:c.2549A>T	NP_055647.2:p.Gln850Leu
NM_014832.4:c.2549A>T	NP_055647.2:p.Gln850Leu
XM_005266603.1:c.2474A>T	XP_005266660.1:p.Gln825Leu
XM_005266605.1:c.2006A>T	XP_005266662.1:p.Gln669Leu
XM_006719903.2:c.2075A>T	XP_006719966.1:p.Gln692Leu
XM_011535331.1:c.2438A>T	XP_011533633.1:p.Gln813Leu
XM_005266603.2:c.2474A>T	XP_005266660.1:p.Gln825Leu
XM_005266605.3:c.2006A>T	XP_005266662.1:p.Gln669Leu
XM_006719903.3:c.2075A>T	XP_006719966.1:p.Gln692Leu
XM_011535331.2:c.2438A>T	XP_011533633.1:p.Gln813Leu
XM_017020882.2:c.1817A>T	XP_016876371.1:p.Gln606Leu
XM_017020883.2:c.1706A>T	XP_016876372.1:p.Gln569Leu
XM_017020884.2:c.116A>T	XP_016876373.1:p.Gln39Leu
NM_014832.5:c.2549A>T MANE Select	NP_055647.2:p.Gln850Leu