Canonical Allele Identifier: CA7292339
Community Standard Title: NM_001330195.2(NRXN3):c.3871C>T (p.Arg1291Trp)
Gene: NRXN3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.79697794C>T , CM000676.2:g.79697794C>T GRCh38
NC_000014.8:g.80164137C>T , CM000676.1:g.80164137C>T GRCh37
NC_000014.7:g.79233890C>T NCBI36
NG_052991.1:g.1532422C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001330195.2:c.3871C>T MANE Select NP_001317124.1:p.Arg1291Trp
ENST00000335750.7:c.3871C>T MANE Select ENSP00000338349.7:p.Arg1291Trp
NM_001105250.2:c.856C>T NP_001098720.1:p.Arg286Trp
NM_001105250.3:c.856C>T NP_001098720.1:p.Arg286Trp
NM_001272020.1:c.766C>T NP_001258949.1:p.Arg256Trp
NM_001272020.2:c.766C>T NP_001258949.1:p.Arg256Trp
NM_001330195.1:c.3871C>T NP_001317124.1:p.Arg1291Trp
NM_001366425.1:c.3781C>T NP_001353354.1:p.Arg1261Trp
NM_001366426.1:c.3883C>T NP_001353355.1:p.Arg1295Trp
NM_004796.5:c.2662C>T NP_004787.2:p.Arg888Trp
NM_004796.6:c.2662C>T NP_004787.2:p.Arg888Trp
NM_138970.4:c.766C>T NP_620426.2:p.Arg256Trp
NM_138970.5:c.766C>T NP_620426.2:p.Arg256Trp
NR_073546.1:n.1809C>T
NR_073546.2:n.1768C>T
NR_073547.1:n.4843C>T
NR_073547.2:n.4843C>T
NR_158973.1:n.4888C>T
NR_158974.1:n.4876C>T
NR_158975.1:n.4798C>T
ENST00000281127.11:c.766C>T ENSP00000281127.7:p.Arg256Trp
ENST00000428277.6:c.856C>T ENSP00000394426.2:p.Arg286Trp
ENST00000554719.5:c.2662C>T ENSP00000451648.1:p.Arg888Trp
ENST00000554738.5:c.3838C>T ENSP00000450683.1:p.Arg1280Trp
ENST00000555387.1:c.856C>T ENSP00000451393.1:p.Arg286Trp
ENST00000556003.1:n.453+33845C>T
ENST00000557594.5:c.766C>T ENSP00000451672.1:p.Arg256Trp
ENST00000634499.1:c.3838C>T ENSP00000488920.1:p.Arg1280Trp
ENST00000634499.2:c.3883C>T ENSP00000488920.2:p.Arg1295Trp
ENST00000635466.1:c.3871C>T ENSP00000489551.1:p.Arg1291Trp
ENST00000635466.2:c.3141C>T
ENST00000676811.1:c.856C>T ENSP00000504450.1:p.Arg286Trp
ENST00000679122.1:c.856C>T ENSP00000502844.1:p.Arg286Trp
XM_005268218.2:c.3907C>T XP_005268275.1:p.Arg1303Trp
XM_005268218.3:c.3907C>T XP_005268275.1:p.Arg1303Trp
XM_006720322.2:c.3895C>T XP_006720385.1:p.Arg1299Trp
XM_006720323.2:c.3871C>T XP_006720386.1:p.Arg1291Trp
XM_011537363.1:c.3907C>T XP_011535665.1:p.Arg1303Trp
XM_011537364.1:c.3907C>T XP_011535666.1:p.Arg1303Trp
XM_011537364.2:c.3907C>T XP_011535666.1:p.Arg1303Trp
XM_011537365.1:c.3907C>T XP_011535667.1:p.Arg1303Trp
XM_011537365.2:c.3907C>T XP_011535667.1:p.Arg1303Trp
XM_011537366.1:c.3883C>T XP_011535668.1:p.Arg1295Trp
XM_011537367.1:c.3817C>T XP_011535669.1:p.Arg1273Trp
XM_011537368.1:c.3907C>T XP_011535670.1:p.Arg1303Trp
XM_011537369.1:c.3907C>T XP_011535671.1:p.Arg1303Trp
XM_011537370.1:c.3883C>T XP_011535672.1:p.Arg1295Trp
XM_011537371.1:c.3907C>T XP_011535673.1:p.Arg1303Trp
XM_011537372.1:c.3907C>T XP_011535674.1:p.Arg1303Trp
XM_011537373.1:c.3817C>T XP_011535675.1:p.Arg1273Trp
XM_011537374.1:c.3907C>T XP_011535676.1:p.Arg1303Trp
XM_011537375.1:c.3907C>T XP_011535677.1:p.Arg1303Trp
XM_011537376.1:c.3907C>T XP_011535678.1:p.Arg1303Trp
XM_011537377.1:c.2815C>T XP_011535679.1:p.Arg939Trp
XM_017021790.1:c.3907C>T XP_016877279.1:p.Arg1303Trp
XM_017021791.1:c.3907C>T XP_016877280.1:p.Arg1303Trp
XM_017021792.1:c.3895C>T XP_016877281.1:p.Arg1299Trp
XM_017021793.1:c.3880C>T XP_016877282.1:p.Arg1294Trp
XM_017021794.1:c.3871C>T XP_016877283.1:p.Arg1291Trp
XM_017021796.2:c.3856C>T XP_016877285.1:p.Arg1286Trp
XM_017021797.1:c.3847C>T XP_016877286.1:p.Arg1283Trp
XM_017021798.1:c.3844C>T XP_016877287.1:p.Arg1282Trp
XM_017021799.2:c.3817C>T XP_016877288.1:p.Arg1273Trp
XM_017021800.1:c.3817C>T XP_016877289.1:p.Arg1273Trp
XM_017021801.1:c.3790C>T XP_016877290.1:p.Arg1264Trp
XM_017021804.1:c.3880C>T XP_016877293.1:p.Arg1294Trp
XM_017021805.1:c.3871C>T XP_016877294.1:p.Arg1291Trp
XM_017021807.1:c.3817C>T XP_016877296.1:p.Arg1273Trp
XM_024449750.1:c.3790C>T XP_024305518.1:p.Arg1264Trp
XM_024449751.1:c.3754C>T XP_024305519.1:p.Arg1252Trp
XM_024449752.1:c.3895C>T XP_024305520.1:p.Arg1299Trp
XM_024449753.1:c.3754C>T XP_024305521.1:p.Arg1252Trp
XR_001750599.1:n.4912C>T
XR_001750600.1:n.4912C>T
XR_001750602.1:n.4885C>T
XR_001750604.1:n.4861C>T
XR_001750605.1:n.4861C>T
XR_001750606.1:n.4822C>T
XR_001750607.1:n.4822C>T
XR_001750609.1:n.4912C>T
XR_001750610.1:n.4657+33845C>T
XR_002957572.1:n.4657+33845C>T
XR_943561.1:n.4657+33845C>T
XR_943562.1:n.4657+33845C>T
XR_943563.1:n.4657+33845C>T
XR_943563.2:n.4657+33845C>T