Canonical Allele Identifier: CA1654303
Gene: NRXN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 383233
dbSNP Id: rs183440866
gnomAD v2: 2-50280430-C-T
gnomAD v3: 2-50053292-C-T
gnomAD v4: 2-50053292-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.50053292C>T , CM000664.2:g.50053292C>T GRCh38
NC_000002.11:g.50280430C>T , CM000664.1:g.50280430C>T GRCh37
NC_000002.10:g.50133934C>T NCBI36
NG_011878.1:g.984245G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000401669.7:c.4107G>A MANE Select ENSP00000385017.2:p.Pro1369=
ENST00000637889.1:n.1274G>A
ENST00000637906.1:c.904G>A ENSP00000490198.1:n.904G>A
ENST00000342183.9:c.912G>A ENSP00000341184.5:p.Pro304=
ENST00000401669.6:c.4107G>A ENSP00000385017.2:p.Pro1369=
ENST00000401710.5:c.1002G>A ENSP00000385580.2:p.Pro334=
ENST00000404971.5:c.4227G>A ENSP00000385142.1:p.Pro1409=
ENST00000405472.7:c.4071G>A ENSP00000434015.2:p.Pro1357=
ENST00000406316.6:c.4017G>A ENSP00000384311.2:p.Pro1339=
ENST00000611589.4:c.180G>A ENSP00000483634.1:p.Pro60=
ENST00000625672.2:c.4083G>A ENSP00000485887.1:p.Pro1361=
ENST00000628364.2:c.1002G>A ENSP00000485815.1:p.Pro334=
ENST00000630543.2:c.4083G>A ENSP00000486879.1:p.Pro1361=
ENST00000635264.1:n.916G>A
NM_001135659.1:c.4227G>A NP_001129131.1:p.Pro1409=
NM_004801.4:c.4017G>A NP_004792.1:p.Pro1339=
NM_138735.2:c.912G>A NP_620072.1:p.Pro304=
XM_005264642.2:c.4128G>A XP_005264699.1:p.Pro1376=
XM_005264643.2:c.4083G>A XP_005264700.1:p.Pro1361=
XM_006712137.2:c.4038G>A XP_006712200.1:p.Pro1346=
XM_006712140.2:c.4128G>A XP_006712203.1:p.Pro1376=
XM_011533167.1:c.4128G>A XP_011531469.1:p.Pro1376=
XM_011533168.1:c.4125G>A XP_011531470.1:p.Pro1375=
XM_011533169.1:c.4116G>A XP_011531471.1:p.Pro1372=
XM_011533170.1:c.4110G>A XP_011531472.1:p.Pro1370=
XM_011533171.1:c.4107G>A XP_011531473.1:p.Pro1369=
XM_011533172.1:c.4101G>A XP_011531474.1:p.Pro1367=
XM_011533173.1:c.4098G>A XP_011531475.1:p.Pro1366=
XM_011533174.1:c.4083G>A XP_011531476.1:p.Pro1361=
XM_011533175.1:c.4071G>A XP_011531477.1:p.Pro1357=
XM_011533176.1:c.4068G>A XP_011531478.1:p.Pro1356=
XM_011533177.1:c.4038G>A XP_011531479.1:p.Pro1346=
XM_011533178.1:c.4038G>A XP_011531480.1:p.Pro1346=
XM_011533179.1:c.3993G>A XP_011531481.1:p.Pro1331=
XM_011533180.1:c.4128G>A XP_011531482.1:p.Pro1376=
XM_011533181.1:c.3333G>A XP_011531483.1:p.Pro1111=
XM_011533182.1:c.3288G>A XP_011531484.1:p.Pro1096=
XM_011533183.1:c.3261G>A XP_011531485.1:p.Pro1087=
XM_011533184.1:c.3168G>A XP_011531486.1:p.Pro1056=
NM_001135659.2:c.4227G>A NP_001129131.1:p.Pro1409=
NM_001330077.1:c.4083G>A NP_001317006.1:p.Pro1361=
NM_001330078.1:c.4107G>A NP_001317007.1:p.Pro1369=
NM_001330082.1:c.4083G>A NP_001317011.1:p.Pro1361=
NM_001330083.1:c.3951G>A NP_001317012.1:p.Pro1317=
NM_001330084.1:c.4041G>A NP_001317013.1:p.Pro1347=
NM_001330085.1:c.4080G>A NP_001317014.1:p.Pro1360=
NM_001330086.1:c.4107G>A NP_001317015.1:p.Pro1369=
NM_001330087.1:c.3906G>A NP_001317016.1:p.Pro1302=
NM_001330088.1:c.3936G>A NP_001317017.1:p.Pro1312=
NM_001330091.1:c.1002G>A NP_001317020.1:p.Pro334=
NM_001330092.1:c.1002G>A NP_001317021.1:p.Pro334=
NM_001330093.1:c.4104G>A NP_001317022.1:p.Pro1368=
NM_001330094.1:c.4095G>A NP_001317023.1:p.Pro1365=
NM_001330095.1:c.3966G>A NP_001317024.1:p.Pro1322=
NM_001330096.1:c.3906G>A NP_001317025.1:p.Pro1302=
NM_001330097.1:c.912G>A NP_001317026.1:p.Pro304=
NM_004801.5:c.4017G>A NP_004792.1:p.Pro1339=
NM_138735.4:c.912G>A NP_620072.1:p.Pro304=
XM_005264642.4:c.4128G>A XP_005264699.1:p.Pro1376=
XM_006712137.4:c.4038G>A XP_006712200.1:p.Pro1346=
XM_006712140.4:c.4155G>A XP_006712203.2:p.Pro1385=
XM_011533167.3:c.4128G>A XP_011531469.1:p.Pro1376=
XM_011533172.3:c.4101G>A XP_011531474.1:p.Pro1367=
XM_011533175.3:c.4071G>A XP_011531477.1:p.Pro1357=
XM_011533177.3:c.4038G>A XP_011531479.1:p.Pro1346=
XM_011533178.3:c.4038G>A XP_011531480.1:p.Pro1346=
XM_011533180.3:c.4128G>A XP_011531482.1:p.Pro1376=
XM_011533183.2:c.3261G>A XP_011531485.1:p.Pro1087=
XM_017005303.2:c.4155G>A XP_016860792.1:p.Pro1385=
XM_017005304.2:c.4152G>A XP_016860793.1:p.Pro1384=
XM_017005305.2:c.4155G>A XP_016860794.1:p.Pro1385=
XM_017005306.2:c.4143G>A XP_016860795.1:p.Pro1381=
XM_017005307.2:c.4137G>A XP_016860796.1:p.Pro1379=
XM_017005308.2:c.4134G>A XP_016860797.1:p.Pro1378=
XM_017005309.2:c.4128G>A XP_016860798.1:p.Pro1376=
XM_017005310.2:c.4125G>A XP_016860799.1:p.Pro1375=
XM_017005311.2:c.4110G>A XP_016860800.1:p.Pro1370=
XM_017005314.2:c.4095G>A XP_016860803.1:p.Pro1365=
XM_017005315.2:c.4101G>A XP_016860804.1:p.Pro1367=
XM_017005316.2:c.4092G>A XP_016860805.1:p.Pro1364=
XM_017005318.2:c.4083G>A XP_016860807.1:p.Pro1361=
XM_017005320.2:c.4080G>A XP_016860809.1:p.Pro1360=
XM_017005321.2:c.4065G>A XP_016860810.1:p.Pro1355=
XM_017005322.2:c.4065G>A XP_016860811.1:p.Pro1355=
XM_017005324.2:c.4011G>A XP_016860813.1:p.Pro1337=
XM_017005325.2:c.4011G>A XP_016860814.1:p.Pro1337=
XM_017005326.2:c.3999G>A XP_016860815.1:p.Pro1333=
XM_017005327.2:c.3993G>A XP_016860816.1:p.Pro1331=
XM_017005329.2:c.4155G>A XP_016860818.1:p.Pro1385=
XM_017005334.2:c.3195G>A XP_016860823.1:p.Pro1065=
NM_001330078.2:c.4107G>A MANE Select NP_001317007.1:p.Pro1369=
NM_001135659.3:c.4227G>A NP_001129131.1:p.Pro1409=
NM_001330077.2:c.4083G>A NP_001317006.1:p.Pro1361=
NM_001330082.2:c.4083G>A NP_001317011.1:p.Pro1361=
NM_001330083.2:c.3951G>A NP_001317012.1:p.Pro1317=
NM_001330084.2:c.4041G>A NP_001317013.1:p.Pro1347=
NM_001330085.2:c.4080G>A NP_001317014.1:p.Pro1360=
NM_001330086.2:c.4107G>A NP_001317015.1:p.Pro1369=
NM_001330087.2:c.3906G>A NP_001317016.1:p.Pro1302=
NM_001330088.2:c.3936G>A NP_001317017.1:p.Pro1312=
NM_001330091.2:c.1002G>A NP_001317020.1:p.Pro334=
NM_001330092.2:c.1002G>A NP_001317021.1:p.Pro334=
NM_001330093.2:c.4104G>A NP_001317022.1:p.Pro1368=
NM_001330094.2:c.4095G>A NP_001317023.1:p.Pro1365=
NM_001330095.2:c.3966G>A NP_001317024.1:p.Pro1322=
NM_001330096.2:c.3906G>A NP_001317025.1:p.Pro1302=
NM_001330097.2:c.912G>A NP_001317026.1:p.Pro304=
NM_004801.6:c.4017G>A NP_004792.1:p.Pro1339=
NM_138735.5:c.912G>A NP_620072.1:p.Pro304=