Canonical Allele Identifier: CA242800
Gene: NIPBL HGNC NCBI

Linked Data

ClinVar Variation Id: 196050
ClinVar RCV Id: RCV000176774
dbSNP Id: rs374265736

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37020798A>G , CM000667.2:g.37020798A>G GRCh38
NC_000005.9:g.37020900A>G , CM000667.1:g.37020900A>G GRCh37
NC_000005.8:g.37056657A>G NCBI36
NG_006987.1:g.148916A>G
NG_006987.2:g.148916A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000282516.13:c.5249A>G MANE Select ENSP00000282516.8:p.Tyr1750Cys
ENST00000652901.1:c.5249A>G ENSP00000499536.1:p.Tyr1750Cys
ENST00000282516.12:c.5249A>G ENSP00000282516.8:p.Tyr1750Cys
ENST00000448238.2:c.5249A>G ENSP00000406266.2:p.Tyr1750Cys
ENST00000621733.1:c.1-43780A>G ENSP00000480694.1:n.1-43780A>G
NM_015384.4:c.5249A>G NP_056199.2:p.Tyr1750Cys
NM_133433.3:c.5249A>G NP_597677.2:p.Tyr1750Cys
XM_005248280.2:c.5249A>G XP_005248337.1:p.Tyr1750Cys
XM_005248282.3:c.4505A>G XP_005248339.2:p.Tyr1502Cys
XM_006714467.2:c.5249A>G XP_006714530.1:p.Tyr1750Cys
XM_006714468.1:c.5051A>G XP_006714531.1:p.Tyr1684Cys
XM_011514014.1:c.4868A>G XP_011512316.1:p.Tyr1623Cys
XM_011514015.1:c.5249A>G XP_011512317.1:p.Tyr1750Cys
XM_005248280.3:c.5249A>G XP_005248337.1:p.Tyr1750Cys
XM_005248282.5:c.4589A>G XP_005248339.3:p.Tyr1530Cys
XM_006714468.2:c.5051A>G XP_006714531.1:p.Tyr1684Cys
XM_017009329.1:c.5249A>G XP_016864818.1:p.Tyr1750Cys
XM_017009330.2:c.3632A>G XP_016864819.1:p.Tyr1211Cys
XM_017009331.1:c.3623A>G XP_016864820.1:p.Tyr1208Cys
NM_133433.4:c.5249A>G MANE Select NP_597677.2:p.Tyr1750Cys
NM_015384.5:c.5249A>G NP_056199.2:p.Tyr1750Cys