Canonical Allele Identifier: CA267537
Gene: NIPBL HGNC NCBI

Linked Data

ClinVar Variation Id: 99930
ClinVar RCV Id: RCV000086379
dbSNP Id: rs80358369
MyVariant Identifiers: chr5:g.37010278T>A (hg19) chr5:g.37010176T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37010176T>A , CM000667.2:g.37010176T>A GRCh38
NC_000005.9:g.37010278T>A , CM000667.1:g.37010278T>A GRCh37
NC_000005.8:g.37046035T>A NCBI36
NG_006987.1:g.138294T>A
NG_006987.2:g.138294T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000282516.13:c.4511T>A MANE Select ENSP00000282516.8:p.Leu1504Ter
ENST00000652901.1:c.4511T>A ENSP00000499536.1:p.Leu1504Ter
ENST00000282516.12:c.4511T>A ENSP00000282516.8:p.Leu1504Ter
ENST00000448238.2:c.4511T>A ENSP00000406266.2:p.Leu1504Ter
ENST00000621733.1:c.1-54402T>A ENSP00000480694.1:n.1-54402T>A
NM_015384.4:c.4511T>A NP_056199.2:p.Leu1504Ter
NM_133433.3:c.4511T>A NP_597677.2:p.Leu1504Ter
XM_005248280.2:c.4511T>A XP_005248337.1:p.Leu1504Ter
XM_005248282.3:c.3767T>A XP_005248339.2:p.Leu1256Ter
XM_006714467.2:c.4511T>A XP_006714530.1:p.Leu1504Ter
XM_006714468.1:c.4313T>A XP_006714531.1:p.Leu1438Ter
XM_011514014.1:c.4130T>A XP_011512316.1:p.Leu1377Ter
XM_011514015.1:c.4511T>A XP_011512317.1:p.Leu1504Ter
XM_005248280.3:c.4511T>A XP_005248337.1:p.Leu1504Ter
XM_005248282.5:c.3851T>A XP_005248339.3:p.Leu1284Ter
XM_006714468.2:c.4313T>A XP_006714531.1:p.Leu1438Ter
XM_017009329.1:c.4511T>A XP_016864818.1:p.Leu1504Ter
XM_017009330.2:c.2894T>A XP_016864819.1:p.Leu965Ter
XM_017009331.1:c.2885T>A XP_016864820.1:p.Leu962Ter
NM_133433.4:c.4511T>A MANE Select NP_597677.2:p.Leu1504Ter
NM_015384.5:c.4511T>A NP_056199.2:p.Leu1504Ter
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