Canonical Allele Identifier: CA3236129
Gene: NIPBL HGNC NCBI

Linked Data

ClinVar Variation Id: 839748
ClinVar RCV Id: RCV001041582
dbSNP Id: rs774516564
gnomAD v2: 5-36985410-C-T
gnomAD v3: 5-36985308-C-T
gnomAD v4: 5-36985308-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.36985308C>T , CM000667.2:g.36985308C>T GRCh38
NC_000005.9:g.36985410C>T , CM000667.1:g.36985410C>T GRCh37
NC_000005.8:g.37021167C>T NCBI36
NG_006987.1:g.113426C>T
NG_006987.2:g.113426C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000282516.13:c.2128C>T MANE Select ENSP00000282516.8:p.Arg710Trp
ENST00000652901.1:c.2128C>T ENSP00000499536.1:p.Arg710Trp
ENST00000282516.12:c.2128C>T ENSP00000282516.8:p.Arg710Trp
ENST00000448238.2:c.2128C>T ENSP00000406266.2:p.Arg710Trp
ENST00000504430.5:n.1748C>T
ENST00000621733.1:c.1-79270C>T ENSP00000480694.1:n.1-79270C>T
NM_015384.4:c.2128C>T NP_056199.2:p.Arg710Trp
NM_133433.3:c.2128C>T NP_597677.2:p.Arg710Trp
XM_005248280.2:c.2128C>T XP_005248337.1:p.Arg710Trp
XM_005248282.3:c.1384C>T XP_005248339.2:p.Arg462Trp
XM_006714467.2:c.2128C>T XP_006714530.1:p.Arg710Trp
XM_006714468.1:c.2128C>T XP_006714531.1:p.Arg710Trp
XM_011514014.1:c.2128C>T XP_011512316.1:p.Arg710Trp
XM_011514015.1:c.2128C>T XP_011512317.1:p.Arg710Trp
XM_005248280.3:c.2128C>T XP_005248337.1:p.Arg710Trp
XM_005248282.5:c.1468C>T XP_005248339.3:p.Arg490Trp
XM_006714468.2:c.2128C>T XP_006714531.1:p.Arg710Trp
XM_017009329.1:c.2128C>T XP_016864818.1:p.Arg710Trp
XM_017009330.2:c.511C>T XP_016864819.1:p.Arg171Trp
XM_017009331.1:c.1495+8906C>T XP_016864820.1:n.1495+8906C>T
NM_133433.4:c.2128C>T MANE Select NP_597677.2:p.Arg710Trp
NM_015384.5:c.2128C>T NP_056199.2:p.Arg710Trp