Canonical Allele Identifier: CA359507676
Gene: NIPBL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.36986176C>T , CM000667.2:g.36986176C>T GRCh38
NC_000005.9:g.36986278C>T , CM000667.1:g.36986278C>T GRCh37
NC_000005.8:g.37022035C>T NCBI36
NG_006987.1:g.114294C>T
NG_006987.2:g.114294C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000282516.13:c.2996C>T MANE Select ENSP00000282516.8:p.Ala999Val
ENST00000652901.1:c.2996C>T ENSP00000499536.1:p.Ala999Val
ENST00000282516.12:c.2996C>T ENSP00000282516.8:p.Ala999Val
ENST00000448238.2:c.2996C>T ENSP00000406266.2:p.Ala999Val
ENST00000504430.5:n.2616C>T
ENST00000621733.1:c.1-78402C>T ENSP00000480694.1:n.1-78402C>T
NM_015384.4:c.2996C>T NP_056199.2:p.Ala999Val
NM_133433.3:c.2996C>T NP_597677.2:p.Ala999Val
XM_005248280.2:c.2996C>T XP_005248337.1:p.Ala999Val
XM_005248282.3:c.2252C>T XP_005248339.2:p.Ala751Val
XM_006714467.2:c.2996C>T XP_006714530.1:p.Ala999Val
XM_006714468.1:c.2996C>T XP_006714531.1:p.Ala999Val
XM_011514014.1:c.2996C>T XP_011512316.1:p.Ala999Val
XM_011514015.1:c.2996C>T XP_011512317.1:p.Ala999Val
XM_005248280.3:c.2996C>T XP_005248337.1:p.Ala999Val
XM_005248282.5:c.2336C>T XP_005248339.3:p.Ala779Val
XM_006714468.2:c.2996C>T XP_006714531.1:p.Ala999Val
XM_017009329.1:c.2996C>T XP_016864818.1:p.Ala999Val
XM_017009330.2:c.1379C>T XP_016864819.1:p.Ala460Val
XM_017009331.1:c.1496-9446C>T XP_016864820.1:n.1496-9446C>T
NM_133433.4:c.2996C>T MANE Select NP_597677.2:p.Ala999Val
NM_015384.5:c.2996C>T NP_056199.2:p.Ala999Val