Canonical Allele Identifier: CA348373555
Gene: BIN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.127048585T>C , CM000664.2:g.127048585T>C GRCh38
NC_000002.11:g.127806161T>C , CM000664.1:g.127806161T>C GRCh37
NC_000002.10:g.127522631T>C NCBI36
NG_012042.1:g.63704A>G

Transcript Alleles

HGVS Amino-acid Change
NM_139343.3:c.1723A>G MANE Select NP_647593.1:p.Lys575Glu
ENST00000316724.10:c.1723A>G MANE Select ENSP00000316779.5:p.Lys575Glu
NM_001320632.1:c.1216A>G NP_001307561.1:p.Lys406Glu
NM_001320632.2:c.1216A>G NP_001307561.1:p.Lys406Glu
NM_001320633.1:c.1354A>G NP_001307562.1:p.Lys452Glu
NM_001320633.2:c.1354A>G NP_001307562.1:p.Lys452Glu
NM_001320634.1:c.1099A>G NP_001307563.1:p.Lys367Glu
NM_001320640.1:c.1483A>G NP_001307569.1:p.Lys495Glu
NM_001320640.2:c.1483A>G NP_001307569.1:p.Lys495Glu
NM_001320641.1:c.1630A>G NP_001307570.1:p.Lys544Glu
NM_001320641.2:c.1630A>G NP_001307570.1:p.Lys544Glu
NM_001320642.1:c.1642A>G NP_001307571.1:p.Lys548Glu
NM_004305.3:c.1306A>G NP_004296.1:p.Lys436Glu
NM_004305.4:c.1306A>G NP_004296.1:p.Lys436Glu
NM_139343.2:c.1723A>G NP_647593.1:p.Lys575Glu
NM_139344.2:c.1594A>G NP_647594.1:p.Lys532Glu
NM_139344.3:c.1594A>G NP_647594.1:p.Lys532Glu
NM_139345.2:c.1462A>G NP_647595.1:p.Lys488Glu
NM_139345.3:c.1462A>G NP_647595.1:p.Lys488Glu
NM_139346.2:c.1435A>G NP_647596.1:p.Lys479Glu
NM_139346.3:c.1435A>G NP_647596.1:p.Lys479Glu
NM_139347.2:c.1498A>G NP_647597.1:p.Lys500Glu
NM_139347.3:c.1498A>G NP_647597.1:p.Lys500Glu
NM_139348.2:c.1390A>G NP_647598.1:p.Lys464Glu
NM_139348.3:c.1390A>G NP_647598.1:p.Lys464Glu
NM_139349.2:c.1369A>G NP_647599.1:p.Lys457Glu
NM_139349.3:c.1369A>G NP_647599.1:p.Lys457Glu
NM_139350.2:c.1261A>G NP_647600.1:p.Lys421Glu
NM_139350.3:c.1261A>G NP_647600.1:p.Lys421Glu
NM_139351.2:c.1171A>G NP_647601.1:p.Lys391Glu
NM_139351.3:c.1171A>G NP_647601.1:p.Lys391Glu
ENST00000259238.8:c.1435A>G ENSP00000259238.4:p.Lys479Glu
ENST00000316724.9:c.1723A>G ENSP00000316779.5:p.Lys575Glu
ENST00000346226.7:c.1498A>G ENSP00000315411.3:p.Lys500Glu
ENST00000348750.8:c.1171A>G ENSP00000259237.5:p.Lys391Glu
ENST00000351659.7:c.1462A>G ENSP00000315388.3:p.Lys488Glu
ENST00000352848.7:c.1306A>G ENSP00000315284.4:p.Lys436Glu
ENST00000352848.8:c.1306A>G ENSP00000315284.4:p.Lys436Glu
ENST00000357970.7:c.1594A>G ENSP00000350654.3:p.Lys532Glu
ENST00000376113.6:c.1216A>G ENSP00000365281.2:p.Lys406Glu
ENST00000393040.7:c.1390A>G ENSP00000376760.3:p.Lys464Glu
ENST00000393041.7:c.1369A>G ENSP00000376761.3:p.Lys457Glu
ENST00000409400.1:c.1261A>G ENSP00000386797.1:p.Lys421Glu
ENST00000462958.5:n.4589A>G
XM_005263642.2:c.1768A>G XP_005263699.1:p.Lys590Glu
XM_005263642.4:c.1768A>G XP_005263699.1:p.Lys590Glu
XM_005263643.2:c.1675A>G XP_005263700.1:p.Lys559Glu
XM_005263643.4:c.1675A>G XP_005263700.1:p.Lys559Glu
XM_005263644.2:c.1630A>G XP_005263701.1:p.Lys544Glu
XM_005263645.1:c.1603A>G XP_005263702.1:p.Lys535Glu
XM_005263645.2:c.1603A>G XP_005263702.1:p.Lys535Glu
XM_005263646.2:c.1354A>G XP_005263703.1:p.Lys452Glu
XM_005263647.2:c.1216A>G XP_005263704.1:p.Lys406Glu
XM_005263648.1:c.1099A>G XP_005263705.1:p.Lys367Glu
XM_006712425.2:c.1636A>G XP_006712488.1:p.Lys546Glu
XM_006712425.4:c.1636A>G XP_006712488.1:p.Lys546Glu
XM_006712426.2:c.1636A>G XP_006712489.1:p.Lys546Glu
XM_006712426.4:c.1636A>G XP_006712489.1:p.Lys546Glu
XM_006712427.1:c.1558A>G XP_006712490.1:p.Lys520Glu
XM_006712427.2:c.1558A>G XP_006712490.1:p.Lys520Glu
XM_006712428.2:c.1528A>G XP_006712491.1:p.Lys510Glu
XM_006712428.4:c.1528A>G XP_006712491.1:p.Lys510Glu
XM_006712429.2:c.1507A>G XP_006712492.1:p.Lys503Glu
XM_006712429.4:c.1507A>G XP_006712492.1:p.Lys503Glu
XM_006712430.2:c.1483A>G XP_006712493.1:p.Lys495Glu
XM_006712431.2:c.1438A>G XP_006712494.1:p.Lys480Glu
XM_006712431.4:c.1438A>G XP_006712494.1:p.Lys480Glu
XM_006712432.2:c.1399A>G XP_006712495.1:p.Lys467Glu
XM_006712432.4:c.1399A>G XP_006712495.1:p.Lys467Glu
XM_006712433.2:c.1309A>G XP_006712496.1:p.Lys437Glu
XM_006712433.4:c.1309A>G XP_006712496.1:p.Lys437Glu
XM_006712434.2:c.1264A>G XP_006712497.1:p.Lys422Glu
XM_006712434.4:c.1264A>G XP_006712497.1:p.Lys422Glu
XM_011510975.1:c.1687A>G XP_011509277.1:p.Lys563Glu
XM_011510975.3:c.1687A>G XP_011509277.1:p.Lys563Glu
XM_017003819.1:c.1696A>G XP_016859308.1:p.Lys566Glu
XM_017003820.2:c.1498A>G XP_016859309.1:p.Lys500Glu
XM_017003821.2:c.1393A>G XP_016859310.1:p.Lys465Glu
XM_017003822.2:c.1300A>G XP_016859311.1:p.Lys434Glu
XM_017003823.1:c.1297A>G XP_016859312.1:p.Lys433Glu
XM_017003824.1:c.1228A>G XP_016859313.1:p.Lys410Glu
XM_017003825.1:c.1192A>G XP_016859314.1:p.Lys398Glu
XM_017003826.1:c.1189A>G XP_016859315.1:p.Lys397Glu
XM_017003827.2:c.1096A>G XP_016859316.1:p.Lys366Glu
XM_017003828.2:c.1051A>G XP_016859317.1:p.Lys351Glu