Canonical Allele Identifier: CA224024
Gene: NIPBL HGNC NCBI

Linked Data

ClinVar Variation Id: 96337
ClinVar RCV Id: RCV000146553 RCV000790717 RCV003925084
dbSNP Id: rs398124466
MyVariant Identifiers: chr5:g.36985884C>T (hg19) chr5:g.36985782C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.36985782C>T , CM000667.2:g.36985782C>T GRCh38
NC_000005.9:g.36985884C>T , CM000667.1:g.36985884C>T GRCh37
NC_000005.8:g.37021641C>T NCBI36
NG_006987.1:g.113900C>T
NG_006987.2:g.113900C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000282516.13:c.2602C>T MANE Select ENSP00000282516.8:p.Arg868Ter
ENST00000652901.1:c.2602C>T ENSP00000499536.1:p.Arg868Ter
ENST00000282516.12:c.2602C>T ENSP00000282516.8:p.Arg868Ter
ENST00000448238.2:c.2602C>T ENSP00000406266.2:p.Arg868Ter
ENST00000504430.5:n.2222C>T
ENST00000621733.1:c.1-78796C>T ENSP00000480694.1:n.1-78796C>T
NM_015384.4:c.2602C>T NP_056199.2:p.Arg868Ter
NM_133433.3:c.2602C>T NP_597677.2:p.Arg868Ter
XM_005248280.2:c.2602C>T XP_005248337.1:p.Arg868Ter
XM_005248282.3:c.1858C>T XP_005248339.2:p.Arg620Ter
XM_006714467.2:c.2602C>T XP_006714530.1:p.Arg868Ter
XM_006714468.1:c.2602C>T XP_006714531.1:p.Arg868Ter
XM_011514014.1:c.2602C>T XP_011512316.1:p.Arg868Ter
XM_011514015.1:c.2602C>T XP_011512317.1:p.Arg868Ter
XM_005248280.3:c.2602C>T XP_005248337.1:p.Arg868Ter
XM_005248282.5:c.1942C>T XP_005248339.3:p.Arg648Ter
XM_006714468.2:c.2602C>T XP_006714531.1:p.Arg868Ter
XM_017009329.1:c.2602C>T XP_016864818.1:p.Arg868Ter
XM_017009330.2:c.985C>T XP_016864819.1:p.Arg329Ter
XM_017009331.1:c.1495+9380C>T XP_016864820.1:n.1495+9380C>T
NM_133433.4:c.2602C>T MANE Select NP_597677.2:p.Arg868Ter
NM_015384.5:c.2602C>T NP_056199.2:p.Arg868Ter
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