Canonical Allele Identifier: CA252123
Gene: NIPBL HGNC NCBI

Linked Data

ClinVar Variation Id: 2147
ClinVar RCV Id: RCV000002229
dbSNP Id: rs121918268
MyVariant Identifiers: chr5:g.37002836C>G (hg19) chr5:g.37002734C>G (hg38)
PubMed: PMID:11391654 PMID:15318302
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37002734C>G , CM000667.2:g.37002734C>G GRCh38
NC_000005.9:g.37002836C>G , CM000667.1:g.37002836C>G GRCh37
NC_000005.8:g.37038593C>G NCBI36
NG_006987.1:g.130852C>G
NG_006987.2:g.130852C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000282516.13:c.3737C>G MANE Select ENSP00000282516.8:p.Ala1246Gly
ENST00000652901.1:c.3737C>G ENSP00000499536.1:p.Ala1246Gly
ENST00000282516.12:c.3737C>G ENSP00000282516.8:p.Ala1246Gly
ENST00000448238.2:c.3737C>G ENSP00000406266.2:p.Ala1246Gly
ENST00000621733.1:c.1-61844C>G ENSP00000480694.1:n.1-61844C>G
NM_015384.4:c.3737C>G NP_056199.2:p.Ala1246Gly
NM_133433.3:c.3737C>G NP_597677.2:p.Ala1246Gly
XM_005248280.2:c.3737C>G XP_005248337.1:p.Ala1246Gly
XM_005248282.3:c.2993C>G XP_005248339.2:p.Ala998Gly
XM_006714467.2:c.3737C>G XP_006714530.1:p.Ala1246Gly
XM_006714468.1:c.3539C>G XP_006714531.1:p.Ala1180Gly
XM_011514014.1:c.3356C>G XP_011512316.1:p.Ala1119Gly
XM_011514015.1:c.3737C>G XP_011512317.1:p.Ala1246Gly
XM_005248280.3:c.3737C>G XP_005248337.1:p.Ala1246Gly
XM_005248282.5:c.3077C>G XP_005248339.3:p.Ala1026Gly
XM_006714468.2:c.3539C>G XP_006714531.1:p.Ala1180Gly
XM_017009329.1:c.3737C>G XP_016864818.1:p.Ala1246Gly
XM_017009330.2:c.2120C>G XP_016864819.1:p.Ala707Gly
XM_017009331.1:c.2111C>G XP_016864820.1:p.Ala704Gly
NM_133433.4:c.3737C>G MANE Select NP_597677.2:p.Ala1246Gly
NM_015384.5:c.3737C>G NP_056199.2:p.Ala1246Gly
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