Canonical Allele Identifier: CA1857104

Gene: BIN1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127052344C>T , CM000664.2:g.127052344C>T	GRCh38
NC_000002.11:g.127809920C>T , CM000664.1:g.127809920C>T	GRCh37
NC_000002.10:g.127526390C>T	NCBI36
NG_012042.1:g.59945G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352848.8:c.955-1101G>A	ENSP00000315284.4:n.955-1101G>A
ENST00000316724.10:c.1282G>A MANE Select	ENSP00000316779.5:p.Gly428Ser
ENST00000259238.8:c.1084-1101G>A	ENSP00000259238.4:n.1084-1101G>A
ENST00000316724.9:c.1282G>A	ENSP00000316779.5:p.Gly428Ser
ENST00000346226.7:c.1057G>A	ENSP00000315411.3:p.Gly353Ser
ENST00000348750.8:c.910-1432G>A	ENSP00000259237.5:n.910-1432G>A
ENST00000351659.7:c.1021G>A	ENSP00000315388.3:p.Gly341Ser
ENST00000352848.7:c.955-1101G>A	ENSP00000315284.4:n.955-1101G>A
ENST00000357970.7:c.1153G>A	ENSP00000350654.3:p.Gly385Ser
ENST00000376113.6:c.955-1432G>A	ENSP00000365281.2:n.955-1432G>A
ENST00000393040.7:c.1039-1101G>A	ENSP00000376760.3:n.1039-1101G>A
ENST00000393041.7:c.928G>A	ENSP00000376761.3:p.Gly310Ser
ENST00000409400.1:c.910-1101G>A	ENSP00000386797.1:n.910-1101G>A
ENST00000462958.5:n.4148G>A
ENST00000466111.5:n.546-1101G>A
ENST00000484253.1:n.557-1101G>A
NM_004305.3:c.955-1101G>A	NP_004296.1:n.955-1101G>A
NM_139343.2:c.1282G>A	NP_647593.1:p.Gly428Ser
NM_139344.2:c.1153G>A	NP_647594.1:p.Gly385Ser
NM_139345.2:c.1021G>A	NP_647595.1:p.Gly341Ser
NM_139346.2:c.1084-1101G>A	NP_647596.1:n.1084-1101G>A
NM_139347.2:c.1057G>A	NP_647597.1:p.Gly353Ser
NM_139348.2:c.1039-1101G>A	NP_647598.1:n.1039-1101G>A
NM_139349.2:c.928G>A	NP_647599.1:p.Gly310Ser
NM_139350.2:c.910-1101G>A	NP_647600.1:n.910-1101G>A
NM_139351.2:c.910-1432G>A	NP_647601.1:n.910-1432G>A
XM_005263642.2:c.1327G>A	XP_005263699.1:p.Gly443Ser
XM_005263643.2:c.1234G>A	XP_005263700.1:p.Gly412Ser
XM_005263644.2:c.1189G>A	XP_005263701.1:p.Gly397Ser
XM_005263645.1:c.1162G>A	XP_005263702.1:p.Gly388Ser
XM_005263646.2:c.1003-1101G>A	XP_005263703.1:n.1003-1101G>A
XM_005263647.2:c.955-1432G>A	XP_005263704.1:n.955-1432G>A
XM_005263648.1:c.838-1432G>A	XP_005263705.1:n.838-1432G>A
XM_006712425.2:c.1285-1101G>A	XP_006712488.1:n.1285-1101G>A
XM_006712426.2:c.1195G>A	XP_006712489.1:p.Gly399Ser
XM_006712427.1:c.1117G>A	XP_006712490.1:p.Gly373Ser
XM_006712428.2:c.1177-1101G>A	XP_006712491.1:n.1177-1101G>A
XM_006712429.2:c.1066G>A	XP_006712492.1:p.Gly356Ser
XM_006712430.2:c.1132-1101G>A	XP_006712493.1:n.1132-1101G>A
XM_006712431.2:c.1177-1432G>A	XP_006712494.1:n.1177-1432G>A
XM_006712432.2:c.1048-1101G>A	XP_006712495.1:n.1048-1101G>A
XM_006712433.2:c.1048-1432G>A	XP_006712496.1:n.1048-1432G>A
XM_006712434.2:c.1003-1432G>A	XP_006712497.1:n.1003-1432G>A
XM_011510975.1:c.1246G>A	XP_011509277.1:p.Gly416Ser
NM_001320632.1:c.955-1432G>A	NP_001307561.1:n.955-1432G>A
NM_001320633.1:c.1003-1101G>A	NP_001307562.1:n.1003-1101G>A
NM_001320634.1:c.838-1432G>A	NP_001307563.1:n.838-1432G>A
NM_001320640.1:c.1132-1101G>A	NP_001307569.1:n.1132-1101G>A
NM_001320641.1:c.1189G>A	NP_001307570.1:p.Gly397Ser
NM_001320642.1:c.1201G>A	NP_001307571.1:p.Gly401Ser
XM_005263642.4:c.1327G>A	XP_005263699.1:p.Gly443Ser
XM_005263643.4:c.1234G>A	XP_005263700.1:p.Gly412Ser
XM_005263645.2:c.1162G>A	XP_005263702.1:p.Gly388Ser
XM_006712425.4:c.1285-1101G>A	XP_006712488.1:n.1285-1101G>A
XM_006712426.4:c.1195G>A	XP_006712489.1:p.Gly399Ser
XM_006712427.2:c.1117G>A	XP_006712490.1:p.Gly373Ser
XM_006712428.4:c.1177-1101G>A	XP_006712491.1:n.1177-1101G>A
XM_006712429.4:c.1066G>A	XP_006712492.1:p.Gly356Ser
XM_006712431.4:c.1177-1432G>A	XP_006712494.1:n.1177-1432G>A
XM_006712432.4:c.1048-1101G>A	XP_006712495.1:n.1048-1101G>A
XM_006712433.4:c.1048-1432G>A	XP_006712496.1:n.1048-1432G>A
XM_006712434.4:c.1003-1432G>A	XP_006712497.1:n.1003-1432G>A
XM_011510975.3:c.1246G>A	XP_011509277.1:p.Gly416Ser
XM_017003819.1:c.1255G>A	XP_016859308.1:p.Gly419Ser
XM_017003820.2:c.1147-1101G>A	XP_016859309.1:n.1147-1101G>A
XM_017003821.2:c.1132-1432G>A	XP_016859310.1:n.1132-1432G>A
XM_017003822.2:c.1039-1432G>A	XP_016859311.1:n.1039-1432G>A
XM_017003823.1:c.856G>A	XP_016859312.1:p.Gly286Ser
XM_017003824.1:c.967-1432G>A	XP_016859313.1:n.967-1432G>A
XM_017003825.1:c.931-1432G>A	XP_016859314.1:n.931-1432G>A
XM_017003826.1:c.838-1101G>A	XP_016859315.1:n.838-1101G>A
XM_017003827.2:c.1048-3711G>A	XP_016859316.1:n.1048-3711G>A
XM_017003828.2:c.1003-3711G>A	XP_016859317.1:n.1003-3711G>A
NM_139343.3:c.1282G>A MANE Select	NP_647593.1:p.Gly428Ser
NM_001320632.2:c.955-1432G>A	NP_001307561.1:n.955-1432G>A
NM_001320633.2:c.1003-1101G>A	NP_001307562.1:n.1003-1101G>A
NM_001320640.2:c.1132-1101G>A	NP_001307569.1:n.1132-1101G>A
NM_001320641.2:c.1189G>A	NP_001307570.1:p.Gly397Ser
NM_004305.4:c.955-1101G>A	NP_004296.1:n.955-1101G>A
NM_139344.3:c.1153G>A	NP_647594.1:p.Gly385Ser
NM_139345.3:c.1021G>A	NP_647595.1:p.Gly341Ser
NM_139346.3:c.1084-1101G>A	NP_647596.1:n.1084-1101G>A
NM_139347.3:c.1057G>A	NP_647597.1:p.Gly353Ser
NM_139348.3:c.1039-1101G>A	NP_647598.1:n.1039-1101G>A
NM_139349.3:c.928G>A	NP_647599.1:p.Gly310Ser
NM_139350.3:c.910-1101G>A	NP_647600.1:n.910-1101G>A
NM_139351.3:c.910-1432G>A	NP_647601.1:n.910-1432G>A