Canonical Allele Identifier: CA443911661

Gene: NIPBL

Linked Data

• COSMIC: COSM121309
• MyVariant Identifiers: chr5:g.37052551C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37052449C>T , CM000667.2:g.37052449C>T	GRCh38
NC_000005.9:g.37052551C>T , CM000667.1:g.37052551C>T	GRCh37
NC_000005.8:g.37088308C>T	NCBI36
NG_006987.1:g.180567C>T
NG_006987.2:g.180567C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.7146C>T MANE Select	ENSP00000282516.8:p.Phe2382=
ENST00000652901.1:c.7146C>T	ENSP00000499536.1:p.Phe2382=
ENST00000282516.12:c.7146C>T	ENSP00000282516.8:p.Phe2382=
ENST00000448238.2:c.7146C>T	ENSP00000406266.2:p.Phe2382=
ENST00000514335.1:n.1028C>T
ENST00000621733.1:c.1-12129C>T	ENSP00000480694.1:n.1-12129C>T
NM_015384.4:c.7146C>T	NP_056199.2:p.Phe2382=
NM_133433.3:c.7146C>T	NP_597677.2:p.Phe2382=
XM_005248280.2:c.7146C>T	XP_005248337.1:p.Phe2382=
XM_005248282.3:c.6402C>T	XP_005248339.2:p.Phe2134=
XM_006714467.2:c.7146C>T	XP_006714530.1:p.Phe2382=
XM_006714468.1:c.6948C>T	XP_006714531.1:p.Phe2316=
XM_011514014.1:c.6765C>T	XP_011512316.1:p.Phe2255=
XM_011514015.1:c.7146C>T	XP_011512317.1:p.Phe2382=
XM_005248280.3:c.7146C>T	XP_005248337.1:p.Phe2382=
XM_005248282.5:c.6486C>T	XP_005248339.3:p.Phe2162=
XM_006714468.2:c.6948C>T	XP_006714531.1:p.Phe2316=
XM_017009329.1:c.7146C>T	XP_016864818.1:p.Phe2382=
XM_017009330.2:c.5529C>T	XP_016864819.1:p.Phe1843=
XM_017009331.1:c.5520C>T	XP_016864820.1:p.Phe1840=
NM_133433.4:c.7146C>T MANE Select	NP_597677.2:p.Phe2382=
NM_015384.5:c.7146C>T	NP_056199.2:p.Phe2382=