Canonical Allele Identifier: CA388276913

Gene: TBC1D4

Linked Data

• MyVariant Identifiers: chr13:g.75898430A>T (hg19) ; chr13:g.75324294A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.75324294A>T , CM000675.2:g.75324294A>T	GRCh38
NC_000013.10:g.75898430A>T , CM000675.1:g.75898430A>T	GRCh37
NC_000013.9:g.74796431A>T	NCBI36
NG_042850.1:g.162875T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000377636.8:c.2141T>A MANE Select	ENSP00000366863.3:p.Leu714Gln
ENST00000648194.1:c.1490+1903T>A	ENSP00000496983.1:n.1490+1903T>A
ENST00000377625.6:c.2033+1903T>A	ENSP00000366852.2:n.2033+1903T>A
ENST00000377636.7:c.2141T>A	ENSP00000366863.3:p.Leu714Gln
ENST00000413735.1:c.569+1903T>A	ENSP00000396932.1:n.569+1903T>A
ENST00000431480.6:c.2141T>A	ENSP00000395986.2:p.Leu714Gln
ENST00000488955.1:n.162T>A
NM_001286658.1:c.2141T>A	NP_001273587.1:p.Leu714Gln
NM_001286658.2:c.2141T>A	NP_001273587.1:p.Leu714Gln
NM_001286659.1:c.2033+1903T>A	NP_001273588.1:n.2033+1903T>A
NM_001286659.2:c.2033+1903T>A	NP_001273588.1:n.2033+1903T>A
NM_014832.3:c.2141T>A	NP_055647.2:p.Leu714Gln
NM_014832.4:c.2141T>A	NP_055647.2:p.Leu714Gln
XM_005266603.1:c.2066T>A	XP_005266660.1:p.Leu689Gln
XM_005266605.1:c.1598T>A	XP_005266662.1:p.Leu533Gln
XM_006719903.2:c.1667T>A	XP_006719966.1:p.Leu556Gln
XM_011535331.1:c.2030T>A	XP_011533633.1:p.Leu677Gln
XM_005266603.2:c.2066T>A	XP_005266660.1:p.Leu689Gln
XM_005266605.3:c.1598T>A	XP_005266662.1:p.Leu533Gln
XM_006719903.3:c.1667T>A	XP_006719966.1:p.Leu556Gln
XM_011535331.2:c.2030T>A	XP_011533633.1:p.Leu677Gln
XM_017020882.2:c.1490+1903T>A	XP_016876371.1:n.1490+1903T>A
XM_017020883.2:c.1379+1903T>A	XP_016876372.1:n.1379+1903T>A
NM_014832.5:c.2141T>A MANE Select	NP_055647.2:p.Leu714Gln