Canonical Allele Identifier: CA224038
Gene: NIPBL HGNC NCBI

Linked Data

ClinVar Variation Id: 96352
ClinVar RCV Id: RCV000146719 RCV000790738
dbSNP Id: rs398124471
COSMIC: COSM3855049 COSM3855050
MyVariant Identifiers: chr5:g.37052624C>T (hg19) chr5:g.37052522C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37052522C>T , CM000667.2:g.37052522C>T GRCh38
NC_000005.9:g.37052624C>T , CM000667.1:g.37052624C>T GRCh37
NC_000005.8:g.37088381C>T NCBI36
NG_006987.1:g.180640C>T
NG_006987.2:g.180640C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000282516.13:c.7219C>T MANE Select ENSP00000282516.8:p.Arg2407Ter
ENST00000652901.1:c.7219C>T ENSP00000499536.1:p.Arg2407Ter
ENST00000282516.12:c.7219C>T ENSP00000282516.8:p.Arg2407Ter
ENST00000448238.2:c.7219C>T ENSP00000406266.2:p.Arg2407Ter
ENST00000514335.1:n.1101C>T
ENST00000621733.1:c.1-12056C>T ENSP00000480694.1:n.1-12056C>T
NM_015384.4:c.7219C>T NP_056199.2:p.Arg2407Ter
NM_133433.3:c.7219C>T NP_597677.2:p.Arg2407Ter
XM_005248280.2:c.7219C>T XP_005248337.1:p.Arg2407Ter
XM_005248282.3:c.6475C>T XP_005248339.2:p.Arg2159Ter
XM_006714467.2:c.7219C>T XP_006714530.1:p.Arg2407Ter
XM_006714468.1:c.7021C>T XP_006714531.1:p.Arg2341Ter
XM_011514014.1:c.6838C>T XP_011512316.1:p.Arg2280Ter
XM_011514015.1:c.7219C>T XP_011512317.1:p.Arg2407Ter
XM_005248280.3:c.7219C>T XP_005248337.1:p.Arg2407Ter
XM_005248282.5:c.6559C>T XP_005248339.3:p.Arg2187Ter
XM_006714468.2:c.7021C>T XP_006714531.1:p.Arg2341Ter
XM_017009329.1:c.7219C>T XP_016864818.1:p.Arg2407Ter
XM_017009330.2:c.5602C>T XP_016864819.1:p.Arg1868Ter
XM_017009331.1:c.5593C>T XP_016864820.1:p.Arg1865Ter
NM_133433.4:c.7219C>T MANE Select NP_597677.2:p.Arg2407Ter
NM_015384.5:c.7219C>T NP_056199.2:p.Arg2407Ter
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