Canonical Allele Identifier: CA359510429

Gene: NIPBL

Linked Data

• ClinVar Variation Id: 2809285
• ClinVar RCV Id: RCV003604153
• MyVariant Identifiers: chr5:g.37051934C>A (hg19) ; chr5:g.37051832C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37051832C>A , CM000667.2:g.37051832C>A	GRCh38
NC_000005.9:g.37051934C>A , CM000667.1:g.37051934C>A	GRCh37
NC_000005.8:g.37087691C>A	NCBI36
NG_006987.1:g.179950C>A
NG_006987.2:g.179950C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.7008C>A MANE Select	ENSP00000282516.8:p.Asn2336Lys
ENST00000652901.1:c.7008C>A	ENSP00000499536.1:p.Asn2336Lys
ENST00000282516.12:c.7008C>A	ENSP00000282516.8:p.Asn2336Lys
ENST00000448238.2:c.7008C>A	ENSP00000406266.2:p.Asn2336Lys
ENST00000514335.1:n.890C>A
ENST00000621733.1:c.1-12746C>A	ENSP00000480694.1:n.1-12746C>A
NM_015384.4:c.7008C>A	NP_056199.2:p.Asn2336Lys
NM_133433.3:c.7008C>A	NP_597677.2:p.Asn2336Lys
XM_005248280.2:c.7008C>A	XP_005248337.1:p.Asn2336Lys
XM_005248282.3:c.6264C>A	XP_005248339.2:p.Asn2088Lys
XM_006714467.2:c.7008C>A	XP_006714530.1:p.Asn2336Lys
XM_006714468.1:c.6810C>A	XP_006714531.1:p.Asn2270Lys
XM_011514014.1:c.6627C>A	XP_011512316.1:p.Asn2209Lys
XM_011514015.1:c.7008C>A	XP_011512317.1:p.Asn2336Lys
XM_005248280.3:c.7008C>A	XP_005248337.1:p.Asn2336Lys
XM_005248282.5:c.6348C>A	XP_005248339.3:p.Asn2116Lys
XM_006714468.2:c.6810C>A	XP_006714531.1:p.Asn2270Lys
XM_017009329.1:c.7008C>A	XP_016864818.1:p.Asn2336Lys
XM_017009330.2:c.5391C>A	XP_016864819.1:p.Asn1797Lys
XM_017009331.1:c.5382C>A	XP_016864820.1:p.Asn1794Lys
NM_133433.4:c.7008C>A MANE Select	NP_597677.2:p.Asn2336Lys
NM_015384.5:c.7008C>A	NP_056199.2:p.Asn2336Lys