Canonical Allele Identifier: CA16617736
Gene: NRXN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.50054994G>A , CM000664.2:g.50054994G>A GRCh38
NC_000002.11:g.50282132G>A , CM000664.1:g.50282132G>A GRCh37
NC_000002.10:g.50135636G>A NCBI36
NG_011878.1:g.982543C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000401669.7:c.3769C>T MANE Select ENSP00000385017.2:p.Arg1257Ter
ENST00000637889.1:n.936C>T
ENST00000637906.1:c.606-1404C>T ENSP00000490198.1:n.606-1404C>T
ENST00000342183.9:c.614-1404C>T ENSP00000341184.5:n.614-1404C>T
ENST00000401669.6:c.3769C>T ENSP00000385017.2:p.Arg1257Ter
ENST00000401710.5:c.664C>T ENSP00000385580.2:p.Arg222Ter
ENST00000404971.5:c.3889C>T ENSP00000385142.1:p.Arg1297Ter
ENST00000405472.7:c.3733C>T ENSP00000434015.2:p.Arg1245Ter
ENST00000406316.6:c.3719-1404C>T ENSP00000384311.2:n.3719-1404C>T
ENST00000611589.4:c.-119-1404C>T ENSP00000483634.1:n.-119-1404C>T
ENST00000625672.2:c.3745C>T ENSP00000485887.1:p.Arg1249Ter
ENST00000628364.2:c.664C>T ENSP00000485815.1:p.Arg222Ter
ENST00000630543.2:c.3745C>T ENSP00000486879.1:p.Arg1249Ter
ENST00000635264.1:n.578C>T
NM_001135659.1:c.3889C>T NP_001129131.1:p.Arg1297Ter
NM_004801.4:c.3719-1404C>T NP_004792.1:n.3719-1404C>T
NM_138735.2:c.614-1404C>T NP_620072.1:n.614-1404C>T
XM_005264642.2:c.3790C>T XP_005264699.1:p.Arg1264Ter
XM_005264643.2:c.3745C>T XP_005264700.1:p.Arg1249Ter
XM_006712137.2:c.3740-1404C>T XP_006712200.1:n.3740-1404C>T
XM_006712140.2:c.3790C>T XP_006712203.1:p.Arg1264Ter
XM_011533167.1:c.3790C>T XP_011531469.1:p.Arg1264Ter
XM_011533168.1:c.3787C>T XP_011531470.1:p.Arg1263Ter
XM_011533169.1:c.3778C>T XP_011531471.1:p.Arg1260Ter
XM_011533170.1:c.3772C>T XP_011531472.1:p.Arg1258Ter
XM_011533171.1:c.3769C>T XP_011531473.1:p.Arg1257Ter
XM_011533172.1:c.3763C>T XP_011531474.1:p.Arg1255Ter
XM_011533173.1:c.3760C>T XP_011531475.1:p.Arg1254Ter
XM_011533174.1:c.3745C>T XP_011531476.1:p.Arg1249Ter
XM_011533175.1:c.3733C>T XP_011531477.1:p.Arg1245Ter
XM_011533176.1:c.3730C>T XP_011531478.1:p.Arg1244Ter
XM_011533177.1:c.3740-1404C>T XP_011531479.1:n.3740-1404C>T
XM_011533178.1:c.3700C>T XP_011531480.1:p.Arg1234Ter
XM_011533179.1:c.3695-1404C>T XP_011531481.1:n.3695-1404C>T
XM_011533180.1:c.3790C>T XP_011531482.1:p.Arg1264Ter
XM_011533181.1:c.2995C>T XP_011531483.1:p.Arg999Ter
XM_011533182.1:c.2950C>T XP_011531484.1:p.Arg984Ter
XM_011533183.1:c.2923C>T XP_011531485.1:p.Arg975Ter
XM_011533184.1:c.2830C>T XP_011531486.1:p.Arg944Ter
NM_001135659.2:c.3889C>T NP_001129131.1:p.Arg1297Ter
NM_001330077.1:c.3745C>T NP_001317006.1:p.Arg1249Ter
NM_001330078.1:c.3769C>T NP_001317007.1:p.Arg1257Ter
NM_001330082.1:c.3745C>T NP_001317011.1:p.Arg1249Ter
NM_001330083.1:c.3653-1404C>T NP_001317012.1:n.3653-1404C>T
NM_001330084.1:c.3703C>T NP_001317013.1:p.Arg1235Ter
NM_001330085.1:c.3742C>T NP_001317014.1:p.Arg1248Ter
NM_001330086.1:c.3769C>T NP_001317015.1:p.Arg1257Ter
NM_001330087.1:c.3608-1404C>T NP_001317016.1:n.3608-1404C>T
NM_001330088.1:c.3638-1404C>T NP_001317017.1:n.3638-1404C>T
NM_001330091.1:c.664C>T NP_001317020.1:p.Arg222Ter
NM_001330092.1:c.664C>T NP_001317021.1:p.Arg222Ter
NM_001330093.1:c.3766C>T NP_001317022.1:p.Arg1256Ter
NM_001330094.1:c.3757C>T NP_001317023.1:p.Arg1253Ter
NM_001330095.1:c.3668-1404C>T NP_001317024.1:n.3668-1404C>T
NM_001330096.1:c.3608-1404C>T NP_001317025.1:n.3608-1404C>T
NM_001330097.1:c.614-1404C>T NP_001317026.1:n.614-1404C>T
NM_004801.5:c.3719-1404C>T NP_004792.1:n.3719-1404C>T
NM_138735.4:c.614-1404C>T NP_620072.1:n.614-1404C>T
XM_005264642.4:c.3790C>T XP_005264699.1:p.Arg1264Ter
XM_006712137.4:c.3740-1404C>T XP_006712200.1:n.3740-1404C>T
XM_006712140.4:c.3817C>T XP_006712203.2:p.Arg1273Ter
XM_011533167.3:c.3790C>T XP_011531469.1:p.Arg1264Ter
XM_011533172.3:c.3763C>T XP_011531474.1:p.Arg1255Ter
XM_011533175.3:c.3733C>T XP_011531477.1:p.Arg1245Ter
XM_011533177.3:c.3740-1404C>T XP_011531479.1:n.3740-1404C>T
XM_011533178.3:c.3700C>T XP_011531480.1:p.Arg1234Ter
XM_011533180.3:c.3790C>T XP_011531482.1:p.Arg1264Ter
XM_011533183.2:c.2923C>T XP_011531485.1:p.Arg975Ter
XM_017005303.2:c.3817C>T XP_016860792.1:p.Arg1273Ter
XM_017005304.2:c.3814C>T XP_016860793.1:p.Arg1272Ter
XM_017005305.2:c.3817C>T XP_016860794.1:p.Arg1273Ter
XM_017005306.2:c.3805C>T XP_016860795.1:p.Arg1269Ter
XM_017005307.2:c.3799C>T XP_016860796.1:p.Arg1267Ter
XM_017005308.2:c.3796C>T XP_016860797.1:p.Arg1266Ter
XM_017005309.2:c.3790C>T XP_016860798.1:p.Arg1264Ter
XM_017005310.2:c.3787C>T XP_016860799.1:p.Arg1263Ter
XM_017005311.2:c.3772C>T XP_016860800.1:p.Arg1258Ter
XM_017005314.2:c.3757C>T XP_016860803.1:p.Arg1253Ter
XM_017005315.2:c.3763C>T XP_016860804.1:p.Arg1255Ter
XM_017005316.2:c.3754C>T XP_016860805.1:p.Arg1252Ter
XM_017005318.2:c.3745C>T XP_016860807.1:p.Arg1249Ter
XM_017005320.2:c.3742C>T XP_016860809.1:p.Arg1248Ter
XM_017005321.2:c.3767-1404C>T XP_016860810.1:n.3767-1404C>T
XM_017005322.2:c.3767-1404C>T XP_016860811.1:n.3767-1404C>T
XM_017005324.2:c.3713-1404C>T XP_016860813.1:n.3713-1404C>T
XM_017005325.2:c.3713-1404C>T XP_016860814.1:n.3713-1404C>T
XM_017005326.2:c.3701-1404C>T XP_016860815.1:n.3701-1404C>T
XM_017005327.2:c.3695-1404C>T XP_016860816.1:n.3695-1404C>T
XM_017005329.2:c.3817C>T XP_016860818.1:p.Arg1273Ter
XM_017005334.2:c.2857C>T XP_016860823.1:p.Arg953Ter
NM_001330078.2:c.3769C>T MANE Select NP_001317007.1:p.Arg1257Ter
NM_001135659.3:c.3889C>T NP_001129131.1:p.Arg1297Ter
NM_001330077.2:c.3745C>T NP_001317006.1:p.Arg1249Ter
NM_001330082.2:c.3745C>T NP_001317011.1:p.Arg1249Ter
NM_001330083.2:c.3653-1404C>T NP_001317012.1:n.3653-1404C>T
NM_001330084.2:c.3703C>T NP_001317013.1:p.Arg1235Ter
NM_001330085.2:c.3742C>T NP_001317014.1:p.Arg1248Ter
NM_001330086.2:c.3769C>T NP_001317015.1:p.Arg1257Ter
NM_001330087.2:c.3608-1404C>T NP_001317016.1:n.3608-1404C>T
NM_001330088.2:c.3638-1404C>T NP_001317017.1:n.3638-1404C>T
NM_001330091.2:c.664C>T NP_001317020.1:p.Arg222Ter
NM_001330092.2:c.664C>T NP_001317021.1:p.Arg222Ter
NM_001330093.2:c.3766C>T NP_001317022.1:p.Arg1256Ter
NM_001330094.2:c.3757C>T NP_001317023.1:p.Arg1253Ter
NM_001330095.2:c.3668-1404C>T NP_001317024.1:n.3668-1404C>T
NM_001330096.2:c.3608-1404C>T NP_001317025.1:n.3608-1404C>T
NM_001330097.2:c.614-1404C>T NP_001317026.1:n.614-1404C>T
NM_004801.6:c.3719-1404C>T NP_004792.1:n.3719-1404C>T
NM_138735.5:c.614-1404C>T NP_620072.1:n.614-1404C>T