Canonical Allele Identifier: CA444096461

Gene: NIPBL CPLANE1

Linked Data

• MyVariant Identifiers: chr5:g.37064727A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37064625A>T , CM000667.2:g.37064625A>T	GRCh38
NC_000005.9:g.37064727A>T , CM000667.1:g.37064727A>T	GRCh37
NC_000005.8:g.37100484A>T	NCBI36
NG_006987.1:g.192743A>T
NG_006987.2:g.192743A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.8148A>T (NIPBL) MANE Select	ENSP00000282516.8:p.Pro2716=
ENST00000652901.1:c.*92A>T (NIPBL)	ENSP00000499536.1:n.*92A>T
ENST00000282516.12:c.8148A>T (NIPBL)	ENSP00000282516.8:p.Pro2716=
ENST00000514335.1:n.2071A>T (NIPBL)
ENST00000621733.1:c.48A>T (NIPBL)	ENSP00000480694.1:p.Pro16=
NM_015384.4:c.*602A>T (NIPBL)	NP_056199.2:n.*602A>T
NM_133433.3:c.8148A>T (NIPBL)	NP_597677.2:p.Pro2716=
XM_005248280.2:c.*92A>T (NIPBL)	XP_005248337.1:n.*92A>T
XM_005248282.3:c.7404A>T (NIPBL)	XP_005248339.2:p.Pro2468=
XM_006714467.2:c.8001A>T (NIPBL)	XP_006714530.1:p.Pro2667=
XM_006714468.1:c.7950A>T (NIPBL)	XP_006714531.1:p.Pro2650=
XM_011514014.1:c.7767A>T (NIPBL)	XP_011512316.1:p.Pro2589=
XM_005248280.3:c.*92A>T (NIPBL)	XP_005248337.1:n.*92A>T
XM_005248282.5:c.7488A>T (NIPBL)	XP_005248339.3:p.Pro2496=
XM_006714468.2:c.7950A>T (NIPBL)	XP_006714531.1:p.Pro2650=
XM_017009329.1:c.*92A>T (NIPBL)	XP_016864818.1:n.*92A>T
XM_017009330.2:c.6531A>T (NIPBL)	XP_016864819.1:p.Pro2177=
XM_017009331.1:c.6522A>T (NIPBL)	XP_016864820.1:p.Pro2174=
XR_925644.2:n.12057T>A (CPLANE1)
NM_133433.4:c.8148A>T (NIPBL) MANE Select	NP_597677.2:p.Pro2716=
NM_015384.5:c.*602A>T (NIPBL)	NP_056199.2:n.*602A>T