Canonical Allele Identifier: CA272264

Gene: NIPBL

Linked Data

• ClinVar Variation Id: 159210
• ClinVar RCV Id: RCV000146704 ; RCV001552677
• dbSNP Id: rs80358376
• COSMIC: COSM5351811 ; COSM5351812
• MyVariant Identifiers: chr5:g.37049341C>T (hg19) ; chr5:g.37049239C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37049239C>T , CM000667.2:g.37049239C>T	GRCh38
NC_000005.9:g.37049341C>T , CM000667.1:g.37049341C>T	GRCh37
NC_000005.8:g.37085098C>T	NCBI36
NG_006987.1:g.177357C>T
NG_006987.2:g.177357C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.6892C>T MANE Select	ENSP00000282516.8:p.Arg2298Cys
ENST00000652901.1:c.6892C>T	ENSP00000499536.1:p.Arg2298Cys
ENST00000282516.12:c.6892C>T	ENSP00000282516.8:p.Arg2298Cys
ENST00000448238.2:c.6892C>T	ENSP00000406266.2:p.Arg2298Cys
ENST00000621733.1:c.1-15339C>T	ENSP00000480694.1:n.1-15339C>T
NM_015384.4:c.6892C>T	NP_056199.2:p.Arg2298Cys
NM_133433.3:c.6892C>T	NP_597677.2:p.Arg2298Cys
XM_005248280.2:c.6892C>T	XP_005248337.1:p.Arg2298Cys
XM_005248282.3:c.6148C>T	XP_005248339.2:p.Arg2050Cys
XM_006714467.2:c.6892C>T	XP_006714530.1:p.Arg2298Cys
XM_006714468.1:c.6694C>T	XP_006714531.1:p.Arg2232Cys
XM_011514014.1:c.6511C>T	XP_011512316.1:p.Arg2171Cys
XM_011514015.1:c.6892C>T	XP_011512317.1:p.Arg2298Cys
XM_005248280.3:c.6892C>T	XP_005248337.1:p.Arg2298Cys
XM_005248282.5:c.6232C>T	XP_005248339.3:p.Arg2078Cys
XM_006714468.2:c.6694C>T	XP_006714531.1:p.Arg2232Cys
XM_017009329.1:c.6892C>T	XP_016864818.1:p.Arg2298Cys
XM_017009330.2:c.5275C>T	XP_016864819.1:p.Arg1759Cys
XM_017009331.1:c.5266C>T	XP_016864820.1:p.Arg1756Cys
NM_133433.4:c.6892C>T MANE Select	NP_597677.2:p.Arg2298Cys
NM_015384.5:c.6892C>T	NP_056199.2:p.Arg2298Cys