Canonical Allele Identifier: CA359486430

Gene: NIPBL

Linked Data

• COSMIC: COSM4618518 ; COSM4618519
• MyVariant Identifiers: chr5:g.37020597G>A (hg19) ; chr5:g.37020495G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37020495G>A , CM000667.2:g.37020495G>A	GRCh38
NC_000005.9:g.37020597G>A , CM000667.1:g.37020597G>A	GRCh37
NC_000005.8:g.37056354G>A	NCBI36
NG_006987.1:g.148613G>A
NG_006987.2:g.148613G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.5047G>A MANE Select	ENSP00000282516.8:p.Asp1683Asn
ENST00000652901.1:c.5047G>A	ENSP00000499536.1:p.Asp1683Asn
ENST00000282516.12:c.5047G>A	ENSP00000282516.8:p.Asp1683Asn
ENST00000448238.2:c.5047G>A	ENSP00000406266.2:p.Asp1683Asn
ENST00000621733.1:c.1-44083G>A	ENSP00000480694.1:n.1-44083G>A
NM_015384.4:c.5047G>A	NP_056199.2:p.Asp1683Asn
NM_133433.3:c.5047G>A	NP_597677.2:p.Asp1683Asn
XM_005248280.2:c.5047G>A	XP_005248337.1:p.Asp1683Asn
XM_005248282.3:c.4303G>A	XP_005248339.2:p.Asp1435Asn
XM_006714467.2:c.5047G>A	XP_006714530.1:p.Asp1683Asn
XM_006714468.1:c.4849G>A	XP_006714531.1:p.Asp1617Asn
XM_011514014.1:c.4666G>A	XP_011512316.1:p.Asp1556Asn
XM_011514015.1:c.5047G>A	XP_011512317.1:p.Asp1683Asn
XM_005248280.3:c.5047G>A	XP_005248337.1:p.Asp1683Asn
XM_005248282.5:c.4387G>A	XP_005248339.3:p.Asp1463Asn
XM_006714468.2:c.4849G>A	XP_006714531.1:p.Asp1617Asn
XM_017009329.1:c.5047G>A	XP_016864818.1:p.Asp1683Asn
XM_017009330.2:c.3430G>A	XP_016864819.1:p.Asp1144Asn
XM_017009331.1:c.3421G>A	XP_016864820.1:p.Asp1141Asn
NM_133433.4:c.5047G>A MANE Select	NP_597677.2:p.Asp1683Asn
NM_015384.5:c.5047G>A	NP_056199.2:p.Asp1683Asn