Canonical Allele Identifier: CA252120

Gene: NIPBL

Linked Data

• ClinVar Variation Id: 2146
• ClinVar RCV Id: RCV000002228
• dbSNP Id: rs121918267
• COSMIC: COSM3855033 ; COSM3855034
• MyVariant Identifiers: chr5:g.37020717C>T (hg19) ; chr5:g.37020615C>T (hg38)
• PubMed: PMID:15146186 ; PMID:15318302

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.5167C>T MANE Select	ENSP00000282516.8:p.Arg1723Ter
ENST00000652901.1:c.5167C>T	ENSP00000499536.1:p.Arg1723Ter
ENST00000282516.12:c.5167C>T	ENSP00000282516.8:p.Arg1723Ter
ENST00000448238.2:c.5167C>T	ENSP00000406266.2:p.Arg1723Ter
ENST00000621733.1:c.1-43963C>T	ENSP00000480694.1:n.1-43963C>T
NM_015384.4:c.5167C>T	NP_056199.2:p.Arg1723Ter
NM_133433.3:c.5167C>T	NP_597677.2:p.Arg1723Ter
XM_005248280.2:c.5167C>T	XP_005248337.1:p.Arg1723Ter
XM_005248282.3:c.4423C>T	XP_005248339.2:p.Arg1475Ter
XM_006714467.2:c.5167C>T	XP_006714530.1:p.Arg1723Ter
XM_006714468.1:c.4969C>T	XP_006714531.1:p.Arg1657Ter
XM_011514014.1:c.4786C>T	XP_011512316.1:p.Arg1596Ter
XM_011514015.1:c.5167C>T	XP_011512317.1:p.Arg1723Ter
XM_005248280.3:c.5167C>T	XP_005248337.1:p.Arg1723Ter
XM_005248282.5:c.4507C>T	XP_005248339.3:p.Arg1503Ter
XM_006714468.2:c.4969C>T	XP_006714531.1:p.Arg1657Ter
XM_017009329.1:c.5167C>T	XP_016864818.1:p.Arg1723Ter
XM_017009330.2:c.3550C>T	XP_016864819.1:p.Arg1184Ter
XM_017009331.1:c.3541C>T	XP_016864820.1:p.Arg1181Ter
NM_133433.4:c.5167C>T MANE Select	NP_597677.2:p.Arg1723Ter
NM_015384.5:c.5167C>T	NP_056199.2:p.Arg1723Ter