Canonical Allele Identifier: CA359487190
Gene: NIPBL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37020615C>G , CM000667.2:g.37020615C>G GRCh38
NC_000005.9:g.37020717C>G , CM000667.1:g.37020717C>G GRCh37
NC_000005.8:g.37056474C>G NCBI36
NG_006987.1:g.148733C>G
NG_006987.2:g.148733C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000282516.13:c.5167C>G MANE Select ENSP00000282516.8:p.Arg1723Gly
ENST00000652901.1:c.5167C>G ENSP00000499536.1:p.Arg1723Gly
ENST00000282516.12:c.5167C>G ENSP00000282516.8:p.Arg1723Gly
ENST00000448238.2:c.5167C>G ENSP00000406266.2:p.Arg1723Gly
ENST00000621733.1:c.1-43963C>G ENSP00000480694.1:n.1-43963C>G
NM_015384.4:c.5167C>G NP_056199.2:p.Arg1723Gly
NM_133433.3:c.5167C>G NP_597677.2:p.Arg1723Gly
XM_005248280.2:c.5167C>G XP_005248337.1:p.Arg1723Gly
XM_005248282.3:c.4423C>G XP_005248339.2:p.Arg1475Gly
XM_006714467.2:c.5167C>G XP_006714530.1:p.Arg1723Gly
XM_006714468.1:c.4969C>G XP_006714531.1:p.Arg1657Gly
XM_011514014.1:c.4786C>G XP_011512316.1:p.Arg1596Gly
XM_011514015.1:c.5167C>G XP_011512317.1:p.Arg1723Gly
XM_005248280.3:c.5167C>G XP_005248337.1:p.Arg1723Gly
XM_005248282.5:c.4507C>G XP_005248339.3:p.Arg1503Gly
XM_006714468.2:c.4969C>G XP_006714531.1:p.Arg1657Gly
XM_017009329.1:c.5167C>G XP_016864818.1:p.Arg1723Gly
XM_017009330.2:c.3550C>G XP_016864819.1:p.Arg1184Gly
XM_017009331.1:c.3541C>G XP_016864820.1:p.Arg1181Gly
NM_133433.4:c.5167C>G MANE Select NP_597677.2:p.Arg1723Gly
NM_015384.5:c.5167C>G NP_056199.2:p.Arg1723Gly