Canonical Allele Identifier: CA3639751

Gene: TBC1D7

Linked Data

• ClinVar Variation Id: 252706
• ClinVar RCV Id: RCV000239022 ; RCV000963616
• dbSNP Id: rs80189640
• ExAC: 6:13316909 G / T
• gnomAD v2: 6-13316909-G-T
• gnomAD v3: 6-13316677-G-T
• gnomAD v4: 6-13316677-G-T
• MyVariant Identifiers: chr6:g.13316909G>T (hg19) ; chr6:g.13316677G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.13316677G>T , CM000668.2:g.13316677G>T	GRCh38
NC_000006.11:g.13316909G>T , CM000668.1:g.13316909G>T	GRCh37
NC_000006.10:g.13424888G>T	NCBI36
NG_033862.1:g.16907C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000379300.8:c.413C>A MANE Select	ENSP00000368602.3:p.Ala138Asp
ENST00000343141.8:c.381+4231C>A	ENSP00000343100.4:n.381+4231C>A
ENST00000356436.8:c.413C>A	ENSP00000348813.4:p.Ala138Asp
ENST00000379300.7:c.413C>A	ENSP00000368602.3:p.Ala138Asp
ENST00000379307.6:c.332C>A	ENSP00000368609.2:p.Ala111Asp
ENST00000420456.5:c.332C>A	ENSP00000412102.1:p.Ala111Asp
ENST00000421203.6:c.413C>A	ENSP00000401438.2:p.Ala138Asp
ENST00000422136.5:c.413C>A	ENSP00000394425.1:p.Ala138Asp
ENST00000428109.5:c.413C>A	ENSP00000414101.1:p.Ala138Asp
ENST00000446018.5:c.332C>A	ENSP00000417005.1:p.Ala111Asp
ENST00000450347.5:c.332C>A	ENSP00000404680.1:p.Ala111Asp
ENST00000452989.5:c.332C>A	ENSP00000414292.1:p.Ala111Asp
ENST00000606214.5:c.413C>A	ENSP00000475727.1:p.Ala138Asp
ENST00000607208.1:n.202C>A
ENST00000607532.5:n.670C>A
ENST00000607658.5:c.332C>A	ENSP00000475191.1:p.Ala111Asp
NM_001143964.3:c.413C>A	NP_001137436.1:p.Ala138Asp
NM_001143965.3:c.413C>A	NP_001137437.1:p.Ala138Asp
NM_001143966.3:c.332C>A	NP_001137438.1:p.Ala111Asp
NM_001258457.2:c.381+4231C>A	NP_001245386.1:n.381+4231C>A
NM_016495.5:c.413C>A	NP_057579.1:p.Ala138Asp
XM_005249163.2:c.413C>A	XP_005249220.1:p.Ala138Asp
XM_005249164.1:c.413C>A	XP_005249221.1:p.Ala138Asp
XM_005249166.1:c.332C>A	XP_005249223.1:p.Ala111Asp
XM_005249167.1:c.332C>A	XP_005249224.1:p.Ala111Asp
XM_011514652.1:c.413C>A	XP_011512954.1:p.Ala138Asp
XM_011514653.1:c.332C>A	XP_011512955.1:p.Ala111Asp
XM_011514654.1:c.381+4231C>A	XP_011512956.1:n.381+4231C>A
XR_926241.1:n.709C>A
NM_001318805.1:c.413C>A	NP_001305734.1:p.Ala138Asp
NM_001318809.1:c.413C>A	NP_001305738.1:p.Ala138Asp
NR_134872.1:n.549C>A
NM_016495.6:c.413C>A MANE Select	NP_057579.1:p.Ala138Asp
NR_134872.2:n.503C>A
NM_001143964.4:c.413C>A	NP_001137436.1:p.Ala138Asp
NM_001143965.4:c.413C>A	NP_001137437.1:p.Ala138Asp
NM_001143966.4:c.332C>A	NP_001137438.1:p.Ala111Asp
NM_001258457.3:c.381+4231C>A	NP_001245386.1:n.381+4231C>A
NM_001318805.2:c.413C>A	NP_001305734.1:p.Ala138Asp
NM_001318809.2:c.413C>A	NP_001305738.1:p.Ala138Asp