Canonical Allele Identifier: CA272323
Gene: NIPBL HGNC NCBI
CPLANE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 159242
ClinVar RCV Id: RCV000146738
dbSNP Id: rs587784053
MyVariant Identifiers: chr5:g.37064752G>C (hg19) chr5:g.37064650G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37064650G>C , CM000667.2:g.37064650G>C GRCh38
NC_000005.9:g.37064752G>C , CM000667.1:g.37064752G>C GRCh37
NC_000005.8:g.37100509G>C NCBI36
NG_006987.1:g.192768G>C
NG_006987.2:g.192768G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000282516.13:c.8173G>C (NIPBL) MANE Select ENSP00000282516.8:p.Ala2725Pro
ENST00000652901.1:c.*117G>C (NIPBL) ENSP00000499536.1:n.*117G>C
ENST00000282516.12:c.8173G>C (NIPBL) ENSP00000282516.8:p.Ala2725Pro
ENST00000514335.1:n.2096G>C (NIPBL)
ENST00000621733.1:c.73G>C (NIPBL) ENSP00000480694.1:p.Ala25Pro
NM_015384.4:c.*627G>C (NIPBL) NP_056199.2:n.*627G>C
NM_133433.3:c.8173G>C (NIPBL) NP_597677.2:p.Ala2725Pro
XM_005248280.2:c.*117G>C (NIPBL) XP_005248337.1:n.*117G>C
XM_005248282.3:c.7429G>C (NIPBL) XP_005248339.2:p.Ala2477Pro
XM_006714467.2:c.8026G>C (NIPBL) XP_006714530.1:p.Ala2676Pro
XM_006714468.1:c.7975G>C (NIPBL) XP_006714531.1:p.Ala2659Pro
XM_011514014.1:c.7792G>C (NIPBL) XP_011512316.1:p.Ala2598Pro
XM_005248280.3:c.*117G>C (NIPBL) XP_005248337.1:n.*117G>C
XM_005248282.5:c.7513G>C (NIPBL) XP_005248339.3:p.Ala2505Pro
XM_006714468.2:c.7975G>C (NIPBL) XP_006714531.1:p.Ala2659Pro
XM_017009329.1:c.*117G>C (NIPBL) XP_016864818.1:n.*117G>C
XM_017009330.2:c.6556G>C (NIPBL) XP_016864819.1:p.Ala2186Pro
XM_017009331.1:c.6547G>C (NIPBL) XP_016864820.1:p.Ala2183Pro
XR_925644.2:n.12032C>G (CPLANE1)
NM_133433.4:c.8173G>C (NIPBL) MANE Select NP_597677.2:p.Ala2725Pro
NM_015384.5:c.*627G>C (NIPBL) NP_056199.2:n.*627G>C
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