Canonical Allele Identifier: CA388276915

Gene: TBC1D4

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000377636.8:c.2141T>G MANE Select	ENSP00000366863.3:p.Leu714Arg
ENST00000648194.1:c.1490+1903T>G	ENSP00000496983.1:n.1490+1903T>G
ENST00000377625.6:c.2033+1903T>G	ENSP00000366852.2:n.2033+1903T>G
ENST00000377636.7:c.2141T>G	ENSP00000366863.3:p.Leu714Arg
ENST00000413735.1:c.569+1903T>G	ENSP00000396932.1:n.569+1903T>G
ENST00000431480.6:c.2141T>G	ENSP00000395986.2:p.Leu714Arg
ENST00000488955.1:n.162T>G
NM_001286658.1:c.2141T>G	NP_001273587.1:p.Leu714Arg
NM_001286658.2:c.2141T>G	NP_001273587.1:p.Leu714Arg
NM_001286659.1:c.2033+1903T>G	NP_001273588.1:n.2033+1903T>G
NM_001286659.2:c.2033+1903T>G	NP_001273588.1:n.2033+1903T>G
NM_014832.3:c.2141T>G	NP_055647.2:p.Leu714Arg
NM_014832.4:c.2141T>G	NP_055647.2:p.Leu714Arg
XM_005266603.1:c.2066T>G	XP_005266660.1:p.Leu689Arg
XM_005266605.1:c.1598T>G	XP_005266662.1:p.Leu533Arg
XM_006719903.2:c.1667T>G	XP_006719966.1:p.Leu556Arg
XM_011535331.1:c.2030T>G	XP_011533633.1:p.Leu677Arg
XM_005266603.2:c.2066T>G	XP_005266660.1:p.Leu689Arg
XM_005266605.3:c.1598T>G	XP_005266662.1:p.Leu533Arg
XM_006719903.3:c.1667T>G	XP_006719966.1:p.Leu556Arg
XM_011535331.2:c.2030T>G	XP_011533633.1:p.Leu677Arg
XM_017020882.2:c.1490+1903T>G	XP_016876371.1:n.1490+1903T>G
XM_017020883.2:c.1379+1903T>G	XP_016876372.1:n.1379+1903T>G
NM_014832.5:c.2141T>G MANE Select	NP_055647.2:p.Leu714Arg