Canonical Allele Identifier: CA443916384

Gene: NIPBL CPLANE1

Linked Data

• MyVariant Identifiers: chr5:g.37064634G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37064532G>A , CM000667.2:g.37064532G>A	GRCh38
NC_000005.9:g.37064634G>A , CM000667.1:g.37064634G>A	GRCh37
NC_000005.8:g.37100391G>A	NCBI36
NG_006987.1:g.192650G>A
NG_006987.2:g.192650G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.8055G>A (NIPBL) MANE Select	ENSP00000282516.8:p.Leu2685=
ENST00000652901.1:c.7949G>A (NIPBL)	ENSP00000499536.1:p.Ter2650=
ENST00000282516.12:c.8055G>A (NIPBL)	ENSP00000282516.8:p.Leu2685=
ENST00000514335.1:n.1978G>A (NIPBL)
ENST00000621733.1:c.1-46G>A (NIPBL)	ENSP00000480694.1:n.1-46G>A
NM_015384.4:c.*509G>A (NIPBL)	NP_056199.2:n.*509G>A
NM_133433.3:c.8055G>A (NIPBL)	NP_597677.2:p.Leu2685=
XM_005248280.2:c.8096G>A (NIPBL)	XP_005248337.1:p.Ter2699=
XM_005248282.3:c.7311G>A (NIPBL)	XP_005248339.2:p.Leu2437=
XM_006714467.2:c.7908G>A (NIPBL)	XP_006714530.1:p.Leu2636=
XM_006714468.1:c.7857G>A (NIPBL)	XP_006714531.1:p.Leu2619=
XM_011514014.1:c.7674G>A (NIPBL)	XP_011512316.1:p.Leu2558=
XM_005248280.3:c.8096G>A (NIPBL)	XP_005248337.1:p.Ter2699=
XM_005248282.5:c.7395G>A (NIPBL)	XP_005248339.3:p.Leu2465=
XM_006714468.2:c.7857G>A (NIPBL)	XP_006714531.1:p.Leu2619=
XM_017009329.1:c.7949G>A (NIPBL)	XP_016864818.1:p.Ter2650=
XM_017009330.2:c.6438G>A (NIPBL)	XP_016864819.1:p.Leu2146=
XM_017009331.1:c.6429G>A (NIPBL)	XP_016864820.1:p.Leu2143=
XR_925644.2:n.12150C>T (CPLANE1)
NM_133433.4:c.8055G>A (NIPBL) MANE Select	NP_597677.2:p.Leu2685=
NM_015384.5:c.*509G>A (NIPBL)	NP_056199.2:n.*509G>A