Canonical Allele Identifier: CA385777403
Community Standard Title: NM_001146213.3(TBC1D15):c.1555T>C (p.Phe519Leu)
Gene: TBC1D15 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.71918504T>C , CM000674.2:g.71918504T>C GRCh38
NC_000012.11:g.72312284T>C , CM000674.1:g.72312284T>C GRCh37
NC_000012.10:g.70598551T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001146213.3:c.1555T>C MANE Select NP_001139685.2:p.Phe519Leu
ENST00000485960.7:c.1555T>C MANE Select ENSP00000420678.2:p.Phe519Leu
NM_001146213.1:c.1555T>C NP_001139685.2:p.Phe519Leu
NM_001146213.2:c.1555T>C NP_001139685.2:p.Phe519Leu
NM_001146214.1:c.1579T>C NP_001139686.1:p.Phe527Leu
NM_001146214.2:c.1579T>C NP_001139686.1:p.Phe527Leu
NM_001146214.3:c.1258T>C NP_001139686.2:p.Phe420Leu
NM_001385848.1:c.1549T>C NP_001372777.1:p.Phe517Leu
NM_001385849.1:c.1522T>C NP_001372778.1:p.Phe508Leu
NM_001385850.1:c.1495T>C NP_001372779.1:p.Phe499Leu
NM_001385851.1:c.1489T>C NP_001372780.1:p.Phe497Leu
NM_001385852.1:c.1480T>C NP_001372781.1:p.Phe494Leu
NM_001385853.1:c.1438T>C NP_001372782.1:p.Phe480Leu
NM_001385854.1:c.1381T>C NP_001372783.1:p.Phe461Leu
NM_022771.4:c.1606T>C NP_073608.4:p.Phe536Leu
NM_022771.5:c.1606T>C NP_073608.4:p.Phe536Leu
NM_022771.6:c.1606T>C NP_073608.4:p.Phe536Leu
NR_027449.1:n.1419T>C
NR_027449.2:n.1367T>C
NR_027449.3:n.1367T>C
NR_169765.1:n.1760T>C
NR_169766.1:n.1498T>C
NR_169767.1:n.1709T>C
NR_169768.1:n.1439T>C
NR_169769.1:n.1574T>C
NR_169770.1:n.1647T>C
NR_169771.1:n.1529T>C
NR_169772.1:n.1228T>C
NR_169773.1:n.1578T>C
NR_169774.1:n.1798T>C
NR_169775.1:n.1669T>C
NR_169776.1:n.1462T>C
NR_169777.1:n.1767T>C
NR_169778.1:n.1557T>C
NR_169779.1:n.1814T>C
NR_169780.1:n.1705T>C
NR_169781.1:n.1553T>C
NR_169782.1:n.1649T>C
NR_169783.1:n.1778T>C
NR_169784.1:n.1367T>C
NR_169785.1:n.1655+707T>C
NR_169786.1:n.1459T>C
NR_169787.1:n.1494T>C
NR_169788.1:n.1321T>C
NR_169789.1:n.1407T>C
ENST00000319106.12:c.1579T>C ENSP00000318262.6:p.Phe527Leu
ENST00000462788.6:c.*969T>C ENSP00000418467.2:n.*969T>C
ENST00000485960.6:c.1555T>C ENSP00000420678.2:p.Phe519Leu
ENST00000546450.1:n.721T>C
ENST00000550746.5:c.1606T>C ENSP00000448182.1:p.Phe536Leu
XM_006719564.2:c.1630T>C XP_006719627.1:p.Phe544Leu
XM_006719565.2:c.1579T>C XP_006719628.1:p.Phe527Leu
XM_006719565.4:c.1579T>C XP_006719628.1:p.Phe527Leu
XM_006719566.2:c.1309T>C XP_006719629.1:p.Phe437Leu
XM_006719566.3:c.1309T>C XP_006719629.1:p.Phe437Leu
XM_006719567.2:c.868T>C XP_006719630.1:p.Phe290Leu
XM_011538679.1:c.1309T>C XP_011536981.1:p.Phe437Leu
XM_011538680.1:c.1309T>C XP_011536982.1:p.Phe437Leu
XM_011538682.1:c.868T>C XP_011536984.1:p.Phe290Leu
XM_011538683.1:c.868T>C XP_011536985.1:p.Phe290Leu
XM_017019825.1:c.1258T>C XP_016875314.1:p.Phe420Leu
XM_017019827.1:c.1174T>C XP_016875316.1:p.Phe392Leu
XM_017019828.1:c.1123T>C XP_016875317.1:p.Phe375Leu