Canonical Allele Identifier: CA443910263

Gene: NIPBL

Linked Data

• COSMIC: COSM4900622 ; COSM4900623
• MyVariant Identifiers: chr5:g.37051982C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37051880C>T , CM000667.2:g.37051880C>T	GRCh38
NC_000005.9:g.37051982C>T , CM000667.1:g.37051982C>T	GRCh37
NC_000005.8:g.37087739C>T	NCBI36
NG_006987.1:g.179998C>T
NG_006987.2:g.179998C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.7056C>T MANE Select	ENSP00000282516.8:p.Phe2352=
ENST00000652901.1:c.7056C>T	ENSP00000499536.1:p.Phe2352=
ENST00000282516.12:c.7056C>T	ENSP00000282516.8:p.Phe2352=
ENST00000448238.2:c.7056C>T	ENSP00000406266.2:p.Phe2352=
ENST00000514335.1:n.938C>T
ENST00000621733.1:c.1-12698C>T	ENSP00000480694.1:n.1-12698C>T
NM_015384.4:c.7056C>T	NP_056199.2:p.Phe2352=
NM_133433.3:c.7056C>T	NP_597677.2:p.Phe2352=
XM_005248280.2:c.7056C>T	XP_005248337.1:p.Phe2352=
XM_005248282.3:c.6312C>T	XP_005248339.2:p.Phe2104=
XM_006714467.2:c.7056C>T	XP_006714530.1:p.Phe2352=
XM_006714468.1:c.6858C>T	XP_006714531.1:p.Phe2286=
XM_011514014.1:c.6675C>T	XP_011512316.1:p.Phe2225=
XM_011514015.1:c.7056C>T	XP_011512317.1:p.Phe2352=
XM_005248280.3:c.7056C>T	XP_005248337.1:p.Phe2352=
XM_005248282.5:c.6396C>T	XP_005248339.3:p.Phe2132=
XM_006714468.2:c.6858C>T	XP_006714531.1:p.Phe2286=
XM_017009329.1:c.7056C>T	XP_016864818.1:p.Phe2352=
XM_017009330.2:c.5439C>T	XP_016864819.1:p.Phe1813=
XM_017009331.1:c.5430C>T	XP_016864820.1:p.Phe1810=
NM_133433.4:c.7056C>T MANE Select	NP_597677.2:p.Phe2352=
NM_015384.5:c.7056C>T	NP_056199.2:p.Phe2352=