Canonical Allele Identifier: CA10615546
Gene: NRXN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 336539
ClinVar RCV Id: RCV000649755 RCV001672583
dbSNP Id: rs1045881
gnomAD v2: 2-50148972-C-T
gnomAD v3: 2-49921834-C-T
gnomAD v4: 2-49921834-C-T
MyVariant Identifiers: chr2:g.50148972C>T (hg19) chr2:g.49921834C>T (hg38)
PubMed: PMID:21288692 PMID:21687627 PMID:21890328
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.49921834C>T , CM000664.2:g.49921834C>T GRCh38
NC_000002.11:g.50148972C>T , CM000664.1:g.50148972C>T GRCh37
NC_000002.10:g.50002476C>T NCBI36
NG_011878.1:g.1115703G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000401669.7:c.*110G>A MANE Select ENSP00000385017.2:n.*110G>A
ENST00000636345.1:c.*110G>A ENSP00000489745.1:n.*110G>A
ENST00000637906.1:c.1431G>A ENSP00000490198.1:n.1431G>A
ENST00000342183.9:c.*110G>A ENSP00000341184.5:n.*110G>A
ENST00000378262.7:c.*110G>A ENSP00000367510.4:n.*110G>A
ENST00000401669.6:c.*110G>A ENSP00000385017.2:n.*110G>A
ENST00000401710.5:c.*110G>A ENSP00000385580.2:n.*110G>A
ENST00000404971.5:c.*110G>A ENSP00000385142.1:n.*110G>A
ENST00000405472.7:c.*110G>A ENSP00000434015.2:n.*110G>A
ENST00000406316.6:c.*110G>A ENSP00000384311.2:n.*110G>A
ENST00000412315.5:c.*110G>A ENSP00000396738.2:n.*110G>A
ENST00000484192.3:n.554G>A
ENST00000611589.4:c.*110G>A ENSP00000483634.1:n.*110G>A
ENST00000625672.2:c.*110G>A ENSP00000485887.1:n.*110G>A
ENST00000628364.2:c.*110G>A ENSP00000485815.1:n.*110G>A
ENST00000629717.1:n.545G>A
ENST00000630656.1:c.*110G>A ENSP00000486993.1:n.*110G>A
ENST00000634412.1:n.779G>A
ENST00000634431.1:n.760G>A
ENST00000634764.1:n.739G>A
ENST00000635164.1:n.1577G>A
ENST00000635519.1:c.*444G>A ENSP00000489258.1:n.*444G>A
NM_001135659.1:c.*110G>A NP_001129131.1:n.*110G>A
NM_004801.4:c.*110G>A NP_004792.1:n.*110G>A
NM_138735.2:c.*110G>A NP_620072.1:n.*110G>A
XM_005264642.2:c.*110G>A XP_005264699.1:n.*110G>A
XM_005264643.2:c.*110G>A XP_005264700.1:n.*110G>A
XM_006712137.2:c.*110G>A XP_006712200.1:n.*110G>A
XM_011533167.1:c.*110G>A XP_011531469.1:n.*110G>A
XM_011533168.1:c.*110G>A XP_011531470.1:n.*110G>A
XM_011533169.1:c.*110G>A XP_011531471.1:n.*110G>A
XM_011533170.1:c.*110G>A XP_011531472.1:n.*110G>A
XM_011533171.1:c.*110G>A XP_011531473.1:n.*110G>A
XM_011533172.1:c.*110G>A XP_011531474.1:n.*110G>A
XM_011533173.1:c.*110G>A XP_011531475.1:n.*110G>A
XM_011533174.1:c.*110G>A XP_011531476.1:n.*110G>A
XM_011533175.1:c.*110G>A XP_011531477.1:n.*110G>A
XM_011533176.1:c.*110G>A XP_011531478.1:n.*110G>A
XM_011533177.1:c.*110G>A XP_011531479.1:n.*110G>A
XM_011533178.1:c.*110G>A XP_011531480.1:n.*110G>A
XM_011533179.1:c.*110G>A XP_011531481.1:n.*110G>A
XM_011533181.1:c.*110G>A XP_011531483.1:n.*110G>A
XM_011533182.1:c.*110G>A XP_011531484.1:n.*110G>A
XM_011533183.1:c.*110G>A XP_011531485.1:n.*110G>A
XM_011533184.1:c.*110G>A XP_011531486.1:n.*110G>A
NM_001135659.2:c.*110G>A NP_001129131.1:n.*110G>A
NM_001320156.3:c.*110G>A NP_001307085.1:n.*110G>A
NM_001320157.3:c.*110G>A NP_001307086.1:n.*110G>A
NM_001330077.1:c.*110G>A NP_001317006.1:n.*110G>A
NM_001330078.1:c.*110G>A NP_001317007.1:n.*110G>A
NM_001330082.1:c.*110G>A NP_001317011.1:n.*110G>A
NM_001330083.1:c.*110G>A NP_001317012.1:n.*110G>A
NM_001330084.1:c.*110G>A NP_001317013.1:n.*110G>A
NM_001330085.1:c.*110G>A NP_001317014.1:n.*110G>A
NM_001330086.1:c.*110G>A NP_001317015.1:n.*110G>A
NM_001330087.1:c.*110G>A NP_001317016.1:n.*110G>A
NM_001330088.1:c.*110G>A NP_001317017.1:n.*110G>A
NM_001330091.1:c.*110G>A NP_001317020.1:n.*110G>A
NM_001330092.1:c.*110G>A NP_001317021.1:n.*110G>A
NM_001330093.1:c.*110G>A NP_001317022.1:n.*110G>A
NM_001330094.1:c.*110G>A NP_001317023.1:n.*110G>A
NM_001330095.1:c.*110G>A NP_001317024.1:n.*110G>A
NM_001330096.1:c.*110G>A NP_001317025.1:n.*110G>A
NM_001330097.1:c.*110G>A NP_001317026.1:n.*110G>A
NM_004801.5:c.*110G>A NP_004792.1:n.*110G>A
NM_138735.4:c.*110G>A NP_620072.1:n.*110G>A
XM_005264642.4:c.*110G>A XP_005264699.1:n.*110G>A
XM_006712137.4:c.*110G>A XP_006712200.1:n.*110G>A
XM_011533167.3:c.*110G>A XP_011531469.1:n.*110G>A
XM_011533172.3:c.*110G>A XP_011531474.1:n.*110G>A
XM_011533175.3:c.*110G>A XP_011531477.1:n.*110G>A
XM_011533177.3:c.*110G>A XP_011531479.1:n.*110G>A
XM_011533178.3:c.*110G>A XP_011531480.1:n.*110G>A
XM_011533183.2:c.*110G>A XP_011531485.1:n.*110G>A
XM_017005303.2:c.*110G>A XP_016860792.1:n.*110G>A
XM_017005304.2:c.*110G>A XP_016860793.1:n.*110G>A
XM_017005305.2:c.*110G>A XP_016860794.1:n.*110G>A
XM_017005306.2:c.*110G>A XP_016860795.1:n.*110G>A
XM_017005307.2:c.*110G>A XP_016860796.1:n.*110G>A
XM_017005308.2:c.*110G>A XP_016860797.1:n.*110G>A
XM_017005309.2:c.*110G>A XP_016860798.1:n.*110G>A
XM_017005310.2:c.*110G>A XP_016860799.1:n.*110G>A
XM_017005311.2:c.*110G>A XP_016860800.1:n.*110G>A
XM_017005314.2:c.*110G>A XP_016860803.1:n.*110G>A
XM_017005315.2:c.*110G>A XP_016860804.1:n.*110G>A
XM_017005316.2:c.*110G>A XP_016860805.1:n.*110G>A
XM_017005318.2:c.*110G>A XP_016860807.1:n.*110G>A
XM_017005320.2:c.*110G>A XP_016860809.1:n.*110G>A
XM_017005321.2:c.*110G>A XP_016860810.1:n.*110G>A
XM_017005322.2:c.*110G>A XP_016860811.1:n.*110G>A
XM_017005324.2:c.*110G>A XP_016860813.1:n.*110G>A
XM_017005325.2:c.*110G>A XP_016860814.1:n.*110G>A
XM_017005326.2:c.*110G>A XP_016860815.1:n.*110G>A
XM_017005327.2:c.*110G>A XP_016860816.1:n.*110G>A
XM_017005334.2:c.*110G>A XP_016860823.1:n.*110G>A
NM_001330078.2:c.*110G>A MANE Select NP_001317007.1:n.*110G>A
NM_001135659.3:c.*110G>A NP_001129131.1:n.*110G>A
NM_001320156.4:c.*110G>A NP_001307085.1:n.*110G>A
NM_001320157.4:c.*110G>A NP_001307086.1:n.*110G>A
NM_001330077.2:c.*110G>A NP_001317006.1:n.*110G>A
NM_001330082.2:c.*110G>A NP_001317011.1:n.*110G>A
NM_001330083.2:c.*110G>A NP_001317012.1:n.*110G>A
NM_001330084.2:c.*110G>A NP_001317013.1:n.*110G>A
NM_001330085.2:c.*110G>A NP_001317014.1:n.*110G>A
NM_001330086.2:c.*110G>A NP_001317015.1:n.*110G>A
NM_001330087.2:c.*110G>A NP_001317016.1:n.*110G>A
NM_001330088.2:c.*110G>A NP_001317017.1:n.*110G>A
NM_001330091.2:c.*110G>A NP_001317020.1:n.*110G>A
NM_001330092.2:c.*110G>A NP_001317021.1:n.*110G>A
NM_001330093.2:c.*110G>A NP_001317022.1:n.*110G>A
NM_001330094.2:c.*110G>A NP_001317023.1:n.*110G>A
NM_001330095.2:c.*110G>A NP_001317024.1:n.*110G>A
NM_001330096.2:c.*110G>A NP_001317025.1:n.*110G>A
NM_001330097.2:c.*110G>A NP_001317026.1:n.*110G>A
NM_004801.6:c.*110G>A NP_004792.1:n.*110G>A
NM_138735.5:c.*110G>A NP_620072.1:n.*110G>A
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