Canonical Allele Identifier: CA272065
Gene: NIPBL HGNC NCBI

Linked Data

ClinVar Variation Id: 159083
ClinVar RCV Id: RCV000146576
dbSNP Id: rs587783922
MyVariant Identifiers: chr5:g.36958320A>G (hg19) chr5:g.36958218A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.36958218A>G , CM000667.2:g.36958218A>G GRCh38
NC_000005.9:g.36958320A>G , CM000667.1:g.36958320A>G GRCh37
NC_000005.8:g.36994077A>G NCBI36
NG_006987.1:g.86336A>G
NG_006987.2:g.86336A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000282516.13:c.345A>G MANE Select ENSP00000282516.8:p.Arg115=
ENST00000652901.1:c.345A>G ENSP00000499536.1:p.Arg115=
ENST00000282516.12:c.345A>G ENSP00000282516.8:p.Arg115=
ENST00000448238.2:c.345A>G ENSP00000406266.2:p.Arg115=
ENST00000505998.5:n.324A>G
ENST00000621733.1:c.-1+81196A>G ENSP00000480694.1:n.-1+81196A>G
NM_015384.4:c.345A>G NP_056199.2:p.Arg115=
NM_133433.3:c.345A>G NP_597677.2:p.Arg115=
XM_005248280.2:c.345A>G XP_005248337.1:p.Arg115=
XM_006714467.2:c.345A>G XP_006714530.1:p.Arg115=
XM_006714468.1:c.345A>G XP_006714531.1:p.Arg115=
XM_011514014.1:c.345A>G XP_011512316.1:p.Arg115=
XM_011514015.1:c.345A>G XP_011512317.1:p.Arg115=
XM_005248280.3:c.345A>G XP_005248337.1:p.Arg115=
XM_006714468.2:c.345A>G XP_006714531.1:p.Arg115=
XM_017009329.1:c.345A>G XP_016864818.1:p.Arg115=
XM_017009331.1:c.345A>G XP_016864820.1:p.Arg115=
NM_133433.4:c.345A>G MANE Select NP_597677.2:p.Arg115=
NM_015384.5:c.345A>G NP_056199.2:p.Arg115=
Search 100 bp 5'
Search 100 bp 3'