Canonical Allele Identifier: CA16605364
Gene: NIPBL HGNC NCBI

Linked Data

ClinVar Variation Id: 391480
ClinVar RCV Id: RCV000434028
dbSNP Id: rs1057524102

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37049192A>G , CM000667.2:g.37049192A>G GRCh38
NC_000005.9:g.37049294A>G , CM000667.1:g.37049294A>G GRCh37
NC_000005.8:g.37085051A>G NCBI36
NG_006987.1:g.177310A>G
NG_006987.2:g.177310A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000282516.13:c.6845A>G MANE Select ENSP00000282516.8:p.Tyr2282Cys
ENST00000652901.1:c.6845A>G ENSP00000499536.1:p.Tyr2282Cys
ENST00000282516.12:c.6845A>G ENSP00000282516.8:p.Tyr2282Cys
ENST00000448238.2:c.6845A>G ENSP00000406266.2:p.Tyr2282Cys
ENST00000621733.1:c.1-15386A>G ENSP00000480694.1:n.1-15386A>G
NM_015384.4:c.6845A>G NP_056199.2:p.Tyr2282Cys
NM_133433.3:c.6845A>G NP_597677.2:p.Tyr2282Cys
XM_005248280.2:c.6845A>G XP_005248337.1:p.Tyr2282Cys
XM_005248282.3:c.6101A>G XP_005248339.2:p.Tyr2034Cys
XM_006714467.2:c.6845A>G XP_006714530.1:p.Tyr2282Cys
XM_006714468.1:c.6647A>G XP_006714531.1:p.Tyr2216Cys
XM_011514014.1:c.6464A>G XP_011512316.1:p.Tyr2155Cys
XM_011514015.1:c.6845A>G XP_011512317.1:p.Tyr2282Cys
XM_005248280.3:c.6845A>G XP_005248337.1:p.Tyr2282Cys
XM_005248282.5:c.6185A>G XP_005248339.3:p.Tyr2062Cys
XM_006714468.2:c.6647A>G XP_006714531.1:p.Tyr2216Cys
XM_017009329.1:c.6845A>G XP_016864818.1:p.Tyr2282Cys
XM_017009330.2:c.5228A>G XP_016864819.1:p.Tyr1743Cys
XM_017009331.1:c.5219A>G XP_016864820.1:p.Tyr1740Cys
NM_133433.4:c.6845A>G MANE Select NP_597677.2:p.Tyr2282Cys
NM_015384.5:c.6845A>G NP_056199.2:p.Tyr2282Cys