Canonical Allele Identifier: CA272292

Gene: NIPBL

Linked Data

• ClinVar Variation Id: 159223
• ClinVar RCV Id: RCV000146717 ; RCV000494480 ; RCV002371984 ; RCV003407564
• dbSNP Id: rs587784036
• COSMIC: COSM4706996 ; COSM4706997
• MyVariant Identifiers: chr5:g.37052573G>A (hg19) ; chr5:g.37052471G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37052471G>A , CM000667.2:g.37052471G>A	GRCh38
NC_000005.9:g.37052573G>A , CM000667.1:g.37052573G>A	GRCh37
NC_000005.8:g.37088330G>A	NCBI36
NG_006987.1:g.180589G>A
NG_006987.2:g.180589G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.7168G>A MANE Select	ENSP00000282516.8:p.Ala2390Thr
ENST00000652901.1:c.7168G>A	ENSP00000499536.1:p.Ala2390Thr
ENST00000282516.12:c.7168G>A	ENSP00000282516.8:p.Ala2390Thr
ENST00000448238.2:c.7168G>A	ENSP00000406266.2:p.Ala2390Thr
ENST00000514335.1:n.1050G>A
ENST00000621733.1:c.1-12107G>A	ENSP00000480694.1:n.1-12107G>A
NM_015384.4:c.7168G>A	NP_056199.2:p.Ala2390Thr
NM_133433.3:c.7168G>A	NP_597677.2:p.Ala2390Thr
XM_005248280.2:c.7168G>A	XP_005248337.1:p.Ala2390Thr
XM_005248282.3:c.6424G>A	XP_005248339.2:p.Ala2142Thr
XM_006714467.2:c.7168G>A	XP_006714530.1:p.Ala2390Thr
XM_006714468.1:c.6970G>A	XP_006714531.1:p.Ala2324Thr
XM_011514014.1:c.6787G>A	XP_011512316.1:p.Ala2263Thr
XM_011514015.1:c.7168G>A	XP_011512317.1:p.Ala2390Thr
XM_005248280.3:c.7168G>A	XP_005248337.1:p.Ala2390Thr
XM_005248282.5:c.6508G>A	XP_005248339.3:p.Ala2170Thr
XM_006714468.2:c.6970G>A	XP_006714531.1:p.Ala2324Thr
XM_017009329.1:c.7168G>A	XP_016864818.1:p.Ala2390Thr
XM_017009330.2:c.5551G>A	XP_016864819.1:p.Ala1851Thr
XM_017009331.1:c.5542G>A	XP_016864820.1:p.Ala1848Thr
NM_133433.4:c.7168G>A MANE Select	NP_597677.2:p.Ala2390Thr
NM_015384.5:c.7168G>A	NP_056199.2:p.Ala2390Thr