Canonical Allele Identifier: CA214736

Gene: TBC1D4

Linked Data

• ClinVar Variation Id: 157612
• ClinVar RCV Id: RCV000144945
• dbSNP Id: rs61736969
• ExAC: 13:75898521 G / A
• gnomAD v2: 13-75898521-G-A
• gnomAD v3: 13-75324385-G-A
• gnomAD v4: 13-75324385-G-A
• COSMIC: COSM263982
• MyVariant Identifiers: chr13:g.75898521G>A (hg19) ; chr13:g.75324385G>A (hg38)
• PubMed: PMID:25043022

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.75324385G>A , CM000675.2:g.75324385G>A	GRCh38
NC_000013.10:g.75898521G>A , CM000675.1:g.75898521G>A	GRCh37
NC_000013.9:g.74796522G>A	NCBI36
NG_042850.1:g.162784C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000377636.8:c.2050C>T MANE Select	ENSP00000366863.3:p.Arg684Ter
ENST00000648194.1:c.1490+1812C>T	ENSP00000496983.1:n.1490+1812C>T
ENST00000377625.6:c.2033+1812C>T	ENSP00000366852.2:n.2033+1812C>T
ENST00000377636.7:c.2050C>T	ENSP00000366863.3:p.Arg684Ter
ENST00000413735.1:c.569+1812C>T	ENSP00000396932.1:n.569+1812C>T
ENST00000431480.6:c.2050C>T	ENSP00000395986.2:p.Arg684Ter
ENST00000488955.1:n.71C>T
NM_001286658.1:c.2050C>T	NP_001273587.1:p.Arg684Ter
NM_001286658.2:c.2050C>T	NP_001273587.1:p.Arg684Ter
NM_001286659.1:c.2033+1812C>T	NP_001273588.1:n.2033+1812C>T
NM_001286659.2:c.2033+1812C>T	NP_001273588.1:n.2033+1812C>T
NM_014832.3:c.2050C>T	NP_055647.2:p.Arg684Ter
NM_014832.4:c.2050C>T	NP_055647.2:p.Arg684Ter
XM_005266603.1:c.1975C>T	XP_005266660.1:p.Arg659Ter
XM_005266605.1:c.1507C>T	XP_005266662.1:p.Arg503Ter
XM_006719903.2:c.1576C>T	XP_006719966.1:p.Arg526Ter
XM_011535331.1:c.1939C>T	XP_011533633.1:p.Arg647Ter
XM_005266603.2:c.1975C>T	XP_005266660.1:p.Arg659Ter
XM_005266605.3:c.1507C>T	XP_005266662.1:p.Arg503Ter
XM_006719903.3:c.1576C>T	XP_006719966.1:p.Arg526Ter
XM_011535331.2:c.1939C>T	XP_011533633.1:p.Arg647Ter
XM_017020882.2:c.1490+1812C>T	XP_016876371.1:n.1490+1812C>T
XM_017020883.2:c.1379+1812C>T	XP_016876372.1:n.1379+1812C>T
NM_014832.5:c.2050C>T MANE Select	NP_055647.2:p.Arg684Ter