Canonical Allele Identifier: CA267522

Gene: NIPBL

Linked Data

• ClinVar Variation Id: 99920
• ClinVar RCV Id: RCV000086366 ; RCV000724758 ; RCV003935082
• dbSNP Id: rs80358367
• COSMIC: COSM1239602 ; COSM1239603
• MyVariant Identifiers: chr5:g.36955642C>T (hg19) ; chr5:g.36955540C>T (hg38)
• PubMed: PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36955540C>T , CM000667.2:g.36955540C>T	GRCh38
NC_000005.9:g.36955642C>T , CM000667.1:g.36955642C>T	GRCh37
NC_000005.8:g.36991399C>T	NCBI36
NG_006987.1:g.83658C>T
NG_006987.2:g.83658C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.133C>T MANE Select	ENSP00000282516.8:p.Arg45Ter
ENST00000652901.1:c.133C>T	ENSP00000499536.1:p.Arg45Ter
ENST00000282516.12:c.133C>T	ENSP00000282516.8:p.Arg45Ter
ENST00000448238.2:c.133C>T	ENSP00000406266.2:p.Arg45Ter
ENST00000505998.5:n.112C>T
ENST00000621733.1:c.-1+78518C>T	ENSP00000480694.1:n.-1+78518C>T
NM_015384.4:c.133C>T	NP_056199.2:p.Arg45Ter
NM_133433.3:c.133C>T	NP_597677.2:p.Arg45Ter
XM_005248280.2:c.133C>T	XP_005248337.1:p.Arg45Ter
XM_006714467.2:c.133C>T	XP_006714530.1:p.Arg45Ter
XM_006714468.1:c.133C>T	XP_006714531.1:p.Arg45Ter
XM_011514014.1:c.133C>T	XP_011512316.1:p.Arg45Ter
XM_011514015.1:c.133C>T	XP_011512317.1:p.Arg45Ter
XM_005248280.3:c.133C>T	XP_005248337.1:p.Arg45Ter
XM_006714468.2:c.133C>T	XP_006714531.1:p.Arg45Ter
XM_017009329.1:c.133C>T	XP_016864818.1:p.Arg45Ter
XM_017009331.1:c.133C>T	XP_016864820.1:p.Arg45Ter
NM_133433.4:c.133C>T MANE Select	NP_597677.2:p.Arg45Ter
NM_015384.5:c.133C>T	NP_056199.2:p.Arg45Ter