Canonical Allele Identifier: CA444096544

Gene: NIPBL CPLANE1

Linked Data

• MyVariant Identifiers: chr5:g.37064838C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37064736C>T , CM000667.2:g.37064736C>T	GRCh38
NC_000005.9:g.37064838C>T , CM000667.1:g.37064838C>T	GRCh37
NC_000005.8:g.37100595C>T	NCBI36
NG_006987.1:g.192854C>T
NG_006987.2:g.192854C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.8259C>T (NIPBL) MANE Select	ENSP00000282516.8:p.Arg2753=
ENST00000652901.1:c.*203C>T (NIPBL)	ENSP00000499536.1:n.*203C>T
ENST00000282516.12:c.8259C>T (NIPBL)	ENSP00000282516.8:p.Arg2753=
ENST00000514335.1:n.2182C>T (NIPBL)
ENST00000621733.1:c.159C>T (NIPBL)	ENSP00000480694.1:p.Arg53=
NM_015384.4:c.*713C>T (NIPBL)	NP_056199.2:n.*713C>T
NM_133433.3:c.8259C>T (NIPBL)	NP_597677.2:p.Arg2753=
XM_005248280.2:c.*203C>T (NIPBL)	XP_005248337.1:n.*203C>T
XM_005248282.3:c.7515C>T (NIPBL)	XP_005248339.2:p.Arg2505=
XM_006714467.2:c.8112C>T (NIPBL)	XP_006714530.1:p.Arg2704=
XM_006714468.1:c.8061C>T (NIPBL)	XP_006714531.1:p.Arg2687=
XM_011514014.1:c.7878C>T (NIPBL)	XP_011512316.1:p.Arg2626=
XM_005248280.3:c.*203C>T (NIPBL)	XP_005248337.1:n.*203C>T
XM_005248282.5:c.7599C>T (NIPBL)	XP_005248339.3:p.Arg2533=
XM_006714468.2:c.8061C>T (NIPBL)	XP_006714531.1:p.Arg2687=
XM_017009329.1:c.*203C>T (NIPBL)	XP_016864818.1:n.*203C>T
XM_017009330.2:c.6642C>T (NIPBL)	XP_016864819.1:p.Arg2214=
XM_017009331.1:c.6633C>T (NIPBL)	XP_016864820.1:p.Arg2211=
XR_925644.2:n.11946G>A (CPLANE1)
NM_133433.4:c.8259C>T (NIPBL) MANE Select	NP_597677.2:p.Arg2753=
NM_015384.5:c.*713C>T (NIPBL)	NP_056199.2:n.*713C>T