Canonical Allele Identifier: CA3639616
Gene: TBC1D7 HGNC NCBI

Linked Data

ClinVar Variation Id: 500788
ClinVar RCV Id: RCV000594426
dbSNP Id: rs200141039
gnomAD v2: 6-13305416-G-A
gnomAD v3: 6-13305184-G-A
gnomAD v4: 6-13305184-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.13305184G>A , CM000668.2:g.13305184G>A GRCh38
NC_000006.11:g.13305416G>A , CM000668.1:g.13305416G>A GRCh37
NC_000006.10:g.13413395G>A NCBI36
NG_033862.1:g.28400C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000379300.8:c.799C>T MANE Select ENSP00000368602.3:p.Pro267Ser
ENST00000343141.8:c.661C>T ENSP00000343100.4:p.Pro221Ser
ENST00000356436.8:c.799C>T ENSP00000348813.4:p.Pro267Ser
ENST00000379300.7:c.799C>T ENSP00000368602.3:p.Pro267Ser
ENST00000379307.6:c.718C>T ENSP00000368609.2:p.Pro240Ser
ENST00000421203.6:c.520-10286C>T ENSP00000401438.2:n.520-10286C>T
ENST00000606214.5:c.799C>T ENSP00000475727.1:p.Pro267Ser
NM_001143964.3:c.799C>T NP_001137436.1:p.Pro267Ser
NM_001143965.3:c.799C>T NP_001137437.1:p.Pro267Ser
NM_001143966.3:c.718C>T NP_001137438.1:p.Pro240Ser
NM_001258457.2:c.661C>T NP_001245386.1:p.Pro221Ser
NM_016495.5:c.799C>T NP_057579.1:p.Pro267Ser
XM_005249163.2:c.799C>T XP_005249220.1:p.Pro267Ser
XM_005249164.1:c.799C>T XP_005249221.1:p.Pro267Ser
XM_005249166.1:c.718C>T XP_005249223.1:p.Pro240Ser
XM_005249167.1:c.718C>T XP_005249224.1:p.Pro240Ser
XM_011514652.1:c.799C>T XP_011512954.1:p.Pro267Ser
XM_011514653.1:c.718C>T XP_011512955.1:p.Pro240Ser
XM_011514654.1:c.661C>T XP_011512956.1:p.Pro221Ser
XR_926241.1:n.1099C>T
NM_001318805.1:c.799C>T NP_001305734.1:p.Pro267Ser
NM_001318809.1:c.799C>T NP_001305738.1:p.Pro267Ser
NR_134872.1:n.656-10286C>T
NM_016495.6:c.799C>T MANE Select NP_057579.1:p.Pro267Ser
NR_134872.2:n.610-10286C>T
NM_001143964.4:c.799C>T NP_001137436.1:p.Pro267Ser
NM_001143965.4:c.799C>T NP_001137437.1:p.Pro267Ser
NM_001143966.4:c.718C>T NP_001137438.1:p.Pro240Ser
NM_001258457.3:c.661C>T NP_001245386.1:p.Pro221Ser
NM_001318805.2:c.799C>T NP_001305734.1:p.Pro267Ser
NM_001318809.2:c.799C>T NP_001305738.1:p.Pro267Ser