Canonical Allele Identifier: CA117046355

Gene: NIPBL

Linked Data

• dbSNP Id: rs1013961720
• gnomAD v4: 5-37045455-A-G
• COSMIC: COSM4752929 ; COSM4752930
• MyVariant Identifiers: chr5:g.37045557A>G (hg19) ; chr5:g.37045455A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37045455A>G , CM000667.2:g.37045455A>G	GRCh38
NC_000005.9:g.37045557A>G , CM000667.1:g.37045557A>G	GRCh37
NC_000005.8:g.37081314A>G	NCBI36
NG_006987.1:g.173573A>G
NG_006987.2:g.173573A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.6356A>G MANE Select	ENSP00000282516.8:p.Lys2119Arg
ENST00000652901.1:c.6356A>G	ENSP00000499536.1:p.Lys2119Arg
ENST00000282516.12:c.6356A>G	ENSP00000282516.8:p.Lys2119Arg
ENST00000448238.2:c.6356A>G	ENSP00000406266.2:p.Lys2119Arg
ENST00000621733.1:c.1-19123A>G	ENSP00000480694.1:n.1-19123A>G
NM_015384.4:c.6356A>G	NP_056199.2:p.Lys2119Arg
NM_133433.3:c.6356A>G	NP_597677.2:p.Lys2119Arg
XM_005248280.2:c.6356A>G	XP_005248337.1:p.Lys2119Arg
XM_005248282.3:c.5612A>G	XP_005248339.2:p.Lys1871Arg
XM_006714467.2:c.6356A>G	XP_006714530.1:p.Lys2119Arg
XM_006714468.1:c.6158A>G	XP_006714531.1:p.Lys2053Arg
XM_011514014.1:c.5975A>G	XP_011512316.1:p.Lys1992Arg
XM_011514015.1:c.6356A>G	XP_011512317.1:p.Lys2119Arg
XM_005248280.3:c.6356A>G	XP_005248337.1:p.Lys2119Arg
XM_005248282.5:c.5696A>G	XP_005248339.3:p.Lys1899Arg
XM_006714468.2:c.6158A>G	XP_006714531.1:p.Lys2053Arg
XM_017009329.1:c.6356A>G	XP_016864818.1:p.Lys2119Arg
XM_017009330.2:c.4739A>G	XP_016864819.1:p.Lys1580Arg
XM_017009331.1:c.4730A>G	XP_016864820.1:p.Lys1577Arg
NM_133433.4:c.6356A>G MANE Select	NP_597677.2:p.Lys2119Arg
NM_015384.5:c.6356A>G	NP_056199.2:p.Lys2119Arg