Canonical Allele Identifier: CA15791461

Gene: TBC1D4

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.75319879T>C , CM000675.2:g.75319879T>C	GRCh38
NC_000013.10:g.75894015T>C , CM000675.1:g.75894015T>C	GRCh37
NC_000013.9:g.74792016T>C	NCBI36
NG_042850.1:g.167290A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377636.8:c.2222+135A>G MANE Select	ENSP00000366863.3:n.2222+135A>G
ENST00000648194.1:c.1490+6318A>G	ENSP00000496983.1:n.1490+6318A>G
ENST00000377625.6:c.2033+6318A>G	ENSP00000366852.2:n.2033+6318A>G
ENST00000377636.7:c.2222+135A>G	ENSP00000366863.3:n.2222+135A>G
ENST00000413735.1:c.569+6318A>G	ENSP00000396932.1:n.569+6318A>G
ENST00000431480.6:c.2198+4358A>G	ENSP00000395986.2:n.2198+4358A>G
ENST00000488955.1:n.219+4358A>G
NM_001286658.1:c.2198+4358A>G	NP_001273587.1:n.2198+4358A>G
NM_001286658.2:c.2198+4358A>G	NP_001273587.1:n.2198+4358A>G
NM_001286659.1:c.2033+6318A>G	NP_001273588.1:n.2033+6318A>G
NM_001286659.2:c.2033+6318A>G	NP_001273588.1:n.2033+6318A>G
NM_014832.3:c.2222+135A>G	NP_055647.2:n.2222+135A>G
NM_014832.4:c.2222+135A>G	NP_055647.2:n.2222+135A>G
XM_005266603.1:c.2147+135A>G	XP_005266660.1:n.2147+135A>G
XM_005266605.1:c.1679+135A>G	XP_005266662.1:n.1679+135A>G
XM_006719903.2:c.1748+135A>G	XP_006719966.1:n.1748+135A>G
XM_011535331.1:c.2111+135A>G	XP_011533633.1:n.2111+135A>G
XM_005266603.2:c.2147+135A>G	XP_005266660.1:n.2147+135A>G
XM_005266605.3:c.1679+135A>G	XP_005266662.1:n.1679+135A>G
XM_006719903.3:c.1748+135A>G	XP_006719966.1:n.1748+135A>G
XM_011535331.2:c.2111+135A>G	XP_011533633.1:n.2111+135A>G
XM_017020882.2:c.1490+6318A>G	XP_016876371.1:n.1490+6318A>G
XM_017020883.2:c.1379+6318A>G	XP_016876372.1:n.1379+6318A>G
NM_014832.5:c.2222+135A>G MANE Select	NP_055647.2:n.2222+135A>G