Canonical Allele Identifier: CA271995
Gene: NIPBL HGNC NCBI

Linked Data

ClinVar Variation Id: 159045
ClinVar RCV Id: RCV000146534
dbSNP Id: rs587783895
MyVariant Identifiers: chr5:g.36955715T>C (hg19) chr5:g.36955613T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.36955613T>C , CM000667.2:g.36955613T>C GRCh38
NC_000005.9:g.36955715T>C , CM000667.1:g.36955715T>C GRCh37
NC_000005.8:g.36991472T>C NCBI36
NG_006987.1:g.83731T>C
NG_006987.2:g.83731T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000282516.13:c.206T>C MANE Select ENSP00000282516.8:p.Leu69Pro
ENST00000652901.1:c.206T>C ENSP00000499536.1:p.Leu69Pro
ENST00000282516.12:c.206T>C ENSP00000282516.8:p.Leu69Pro
ENST00000448238.2:c.206T>C ENSP00000406266.2:p.Leu69Pro
ENST00000505998.5:n.185T>C
ENST00000621733.1:c.-1+78591T>C ENSP00000480694.1:n.-1+78591T>C
NM_015384.4:c.206T>C NP_056199.2:p.Leu69Pro
NM_133433.3:c.206T>C NP_597677.2:p.Leu69Pro
XM_005248280.2:c.206T>C XP_005248337.1:p.Leu69Pro
XM_006714467.2:c.206T>C XP_006714530.1:p.Leu69Pro
XM_006714468.1:c.206T>C XP_006714531.1:p.Leu69Pro
XM_011514014.1:c.206T>C XP_011512316.1:p.Leu69Pro
XM_011514015.1:c.206T>C XP_011512317.1:p.Leu69Pro
XM_005248280.3:c.206T>C XP_005248337.1:p.Leu69Pro
XM_006714468.2:c.206T>C XP_006714531.1:p.Leu69Pro
XM_017009329.1:c.206T>C XP_016864818.1:p.Leu69Pro
XM_017009331.1:c.206T>C XP_016864820.1:p.Leu69Pro
NM_133433.4:c.206T>C MANE Select NP_597677.2:p.Leu69Pro
NM_015384.5:c.206T>C NP_056199.2:p.Leu69Pro
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