Canonical Allele Identifier: CA359504209
Gene: NIPBL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37045482C>G , CM000667.2:g.37045482C>G GRCh38
NC_000005.9:g.37045584C>G , CM000667.1:g.37045584C>G GRCh37
NC_000005.8:g.37081341C>G NCBI36
NG_006987.1:g.173600C>G
NG_006987.2:g.173600C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000282516.13:c.6383C>G MANE Select ENSP00000282516.8:p.Pro2128Arg
ENST00000652901.1:c.6383C>G ENSP00000499536.1:p.Pro2128Arg
ENST00000282516.12:c.6383C>G ENSP00000282516.8:p.Pro2128Arg
ENST00000448238.2:c.6383C>G ENSP00000406266.2:p.Pro2128Arg
ENST00000621733.1:c.1-19096C>G ENSP00000480694.1:n.1-19096C>G
NM_015384.4:c.6383C>G NP_056199.2:p.Pro2128Arg
NM_133433.3:c.6383C>G NP_597677.2:p.Pro2128Arg
XM_005248280.2:c.6383C>G XP_005248337.1:p.Pro2128Arg
XM_005248282.3:c.5639C>G XP_005248339.2:p.Pro1880Arg
XM_006714467.2:c.6383C>G XP_006714530.1:p.Pro2128Arg
XM_006714468.1:c.6185C>G XP_006714531.1:p.Pro2062Arg
XM_011514014.1:c.6002C>G XP_011512316.1:p.Pro2001Arg
XM_011514015.1:c.6383C>G XP_011512317.1:p.Pro2128Arg
XM_005248280.3:c.6383C>G XP_005248337.1:p.Pro2128Arg
XM_005248282.5:c.5723C>G XP_005248339.3:p.Pro1908Arg
XM_006714468.2:c.6185C>G XP_006714531.1:p.Pro2062Arg
XM_017009329.1:c.6383C>G XP_016864818.1:p.Pro2128Arg
XM_017009330.2:c.4766C>G XP_016864819.1:p.Pro1589Arg
XM_017009331.1:c.4757C>G XP_016864820.1:p.Pro1586Arg
NM_133433.4:c.6383C>G MANE Select NP_597677.2:p.Pro2128Arg
NM_015384.5:c.6383C>G NP_056199.2:p.Pro2128Arg