Canonical Allele Identifier: CA272009
Gene: NIPBL HGNC NCBI

Linked Data

ClinVar Variation Id: 159053
ClinVar RCV Id: RCV000146542 RCV002512063
dbSNP Id: rs587783901
COSMIC: COSM4775972 COSM4775973
MyVariant Identifiers: chr5:g.36985671C>T (hg19) chr5:g.36985569C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.36985569C>T , CM000667.2:g.36985569C>T GRCh38
NC_000005.9:g.36985671C>T , CM000667.1:g.36985671C>T GRCh37
NC_000005.8:g.37021428C>T NCBI36
NG_006987.1:g.113687C>T
NG_006987.2:g.113687C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000282516.13:c.2389C>T MANE Select ENSP00000282516.8:p.Arg797Ter
ENST00000652901.1:c.2389C>T ENSP00000499536.1:p.Arg797Ter
ENST00000282516.12:c.2389C>T ENSP00000282516.8:p.Arg797Ter
ENST00000448238.2:c.2389C>T ENSP00000406266.2:p.Arg797Ter
ENST00000504430.5:n.2009C>T
ENST00000621733.1:c.1-79009C>T ENSP00000480694.1:n.1-79009C>T
NM_015384.4:c.2389C>T NP_056199.2:p.Arg797Ter
NM_133433.3:c.2389C>T NP_597677.2:p.Arg797Ter
XM_005248280.2:c.2389C>T XP_005248337.1:p.Arg797Ter
XM_005248282.3:c.1645C>T XP_005248339.2:p.Arg549Ter
XM_006714467.2:c.2389C>T XP_006714530.1:p.Arg797Ter
XM_006714468.1:c.2389C>T XP_006714531.1:p.Arg797Ter
XM_011514014.1:c.2389C>T XP_011512316.1:p.Arg797Ter
XM_011514015.1:c.2389C>T XP_011512317.1:p.Arg797Ter
XM_005248280.3:c.2389C>T XP_005248337.1:p.Arg797Ter
XM_005248282.5:c.1729C>T XP_005248339.3:p.Arg577Ter
XM_006714468.2:c.2389C>T XP_006714531.1:p.Arg797Ter
XM_017009329.1:c.2389C>T XP_016864818.1:p.Arg797Ter
XM_017009330.2:c.772C>T XP_016864819.1:p.Arg258Ter
XM_017009331.1:c.1495+9167C>T XP_016864820.1:n.1495+9167C>T
NM_133433.4:c.2389C>T MANE Select NP_597677.2:p.Arg797Ter
NM_015384.5:c.2389C>T NP_056199.2:p.Arg797Ter
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