Canonical Allele Identifier: CA3237118
Gene: NIPBL HGNC NCBI

Linked Data

ClinVar Variation Id: 702326
ClinVar RCV Id: RCV001157616
dbSNP Id: rs398124470
gnomAD v2: 5-37051973-T-C
gnomAD v3: 5-37051871-T-C
gnomAD v4: 5-37051871-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37051871T>C , CM000667.2:g.37051871T>C GRCh38
NC_000005.9:g.37051973T>C , CM000667.1:g.37051973T>C GRCh37
NC_000005.8:g.37087730T>C NCBI36
NG_006987.1:g.179989T>C
NG_006987.2:g.179989T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000282516.13:c.7047T>C MANE Select ENSP00000282516.8:p.Tyr2349=
ENST00000652901.1:c.7047T>C ENSP00000499536.1:p.Tyr2349=
ENST00000282516.12:c.7047T>C ENSP00000282516.8:p.Tyr2349=
ENST00000448238.2:c.7047T>C ENSP00000406266.2:p.Tyr2349=
ENST00000514335.1:n.929T>C
ENST00000621733.1:c.1-12707T>C ENSP00000480694.1:n.1-12707T>C
NM_015384.4:c.7047T>C NP_056199.2:p.Tyr2349=
NM_133433.3:c.7047T>C NP_597677.2:p.Tyr2349=
XM_005248280.2:c.7047T>C XP_005248337.1:p.Tyr2349=
XM_005248282.3:c.6303T>C XP_005248339.2:p.Tyr2101=
XM_006714467.2:c.7047T>C XP_006714530.1:p.Tyr2349=
XM_006714468.1:c.6849T>C XP_006714531.1:p.Tyr2283=
XM_011514014.1:c.6666T>C XP_011512316.1:p.Tyr2222=
XM_011514015.1:c.7047T>C XP_011512317.1:p.Tyr2349=
XM_005248280.3:c.7047T>C XP_005248337.1:p.Tyr2349=
XM_005248282.5:c.6387T>C XP_005248339.3:p.Tyr2129=
XM_006714468.2:c.6849T>C XP_006714531.1:p.Tyr2283=
XM_017009329.1:c.7047T>C XP_016864818.1:p.Tyr2349=
XM_017009330.2:c.5430T>C XP_016864819.1:p.Tyr1810=
XM_017009331.1:c.5421T>C XP_016864820.1:p.Tyr1807=
NM_133433.4:c.7047T>C MANE Select NP_597677.2:p.Tyr2349=
NM_015384.5:c.7047T>C NP_056199.2:p.Tyr2349=