Canonical Allele Identifier: CA272113
Gene: NIPBL HGNC NCBI

Linked Data

ClinVar Variation Id: 159118
ClinVar RCV Id: RCV000146611
dbSNP Id: rs587783950
MyVariant Identifiers: chr5:g.37010310G>T (hg19) chr5:g.37010208G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37010208G>T , CM000667.2:g.37010208G>T GRCh38
NC_000005.9:g.37010310G>T , CM000667.1:g.37010310G>T GRCh37
NC_000005.8:g.37046067G>T NCBI36
NG_006987.1:g.138326G>T
NG_006987.2:g.138326G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000282516.13:c.4543G>T MANE Select ENSP00000282516.8:p.Glu1515Ter
ENST00000652901.1:c.4543G>T ENSP00000499536.1:p.Glu1515Ter
ENST00000282516.12:c.4543G>T ENSP00000282516.8:p.Glu1515Ter
ENST00000448238.2:c.4543G>T ENSP00000406266.2:p.Glu1515Ter
ENST00000621733.1:c.1-54370G>T ENSP00000480694.1:n.1-54370G>T
NM_015384.4:c.4543G>T NP_056199.2:p.Glu1515Ter
NM_133433.3:c.4543G>T NP_597677.2:p.Glu1515Ter
XM_005248280.2:c.4543G>T XP_005248337.1:p.Glu1515Ter
XM_005248282.3:c.3799G>T XP_005248339.2:p.Glu1267Ter
XM_006714467.2:c.4543G>T XP_006714530.1:p.Glu1515Ter
XM_006714468.1:c.4345G>T XP_006714531.1:p.Glu1449Ter
XM_011514014.1:c.4162G>T XP_011512316.1:p.Glu1388Ter
XM_011514015.1:c.4543G>T XP_011512317.1:p.Glu1515Ter
XM_005248280.3:c.4543G>T XP_005248337.1:p.Glu1515Ter
XM_005248282.5:c.3883G>T XP_005248339.3:p.Glu1295Ter
XM_006714468.2:c.4345G>T XP_006714531.1:p.Glu1449Ter
XM_017009329.1:c.4543G>T XP_016864818.1:p.Glu1515Ter
XM_017009330.2:c.2926G>T XP_016864819.1:p.Glu976Ter
XM_017009331.1:c.2917G>T XP_016864820.1:p.Glu973Ter
NM_133433.4:c.4543G>T MANE Select NP_597677.2:p.Glu1515Ter
NM_015384.5:c.4543G>T NP_056199.2:p.Glu1515Ter
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