Canonical Allele Identifier: CA443916401

Gene: NIPBL CPLANE1

Linked Data

• MyVariant Identifiers: chr5:g.37064658C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37064556C>T , CM000667.2:g.37064556C>T	GRCh38
NC_000005.9:g.37064658C>T , CM000667.1:g.37064658C>T	GRCh37
NC_000005.8:g.37100415C>T	NCBI36
NG_006987.1:g.192674C>T
NG_006987.2:g.192674C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.8079C>T (NIPBL) MANE Select	ENSP00000282516.8:p.Asp2693=
ENST00000652901.1:c.*23C>T (NIPBL)	ENSP00000499536.1:n.*23C>T
ENST00000282516.12:c.8079C>T (NIPBL)	ENSP00000282516.8:p.Asp2693=
ENST00000514335.1:n.2002C>T (NIPBL)
ENST00000621733.1:c.1-22C>T (NIPBL)	ENSP00000480694.1:n.1-22C>T
NM_015384.4:c.*533C>T (NIPBL)	NP_056199.2:n.*533C>T
NM_133433.3:c.8079C>T (NIPBL)	NP_597677.2:p.Asp2693=
XM_005248280.2:c.*23C>T (NIPBL)	XP_005248337.1:n.*23C>T
XM_005248282.3:c.7335C>T (NIPBL)	XP_005248339.2:p.Asp2445=
XM_006714467.2:c.7932C>T (NIPBL)	XP_006714530.1:p.Asp2644=
XM_006714468.1:c.7881C>T (NIPBL)	XP_006714531.1:p.Asp2627=
XM_011514014.1:c.7698C>T (NIPBL)	XP_011512316.1:p.Asp2566=
XM_005248280.3:c.*23C>T (NIPBL)	XP_005248337.1:n.*23C>T
XM_005248282.5:c.7419C>T (NIPBL)	XP_005248339.3:p.Asp2473=
XM_006714468.2:c.7881C>T (NIPBL)	XP_006714531.1:p.Asp2627=
XM_017009329.1:c.*23C>T (NIPBL)	XP_016864818.1:n.*23C>T
XM_017009330.2:c.6462C>T (NIPBL)	XP_016864819.1:p.Asp2154=
XM_017009331.1:c.6453C>T (NIPBL)	XP_016864820.1:p.Asp2151=
XR_925644.2:n.12126G>A (CPLANE1)
NM_133433.4:c.8079C>T (NIPBL) MANE Select	NP_597677.2:p.Asp2693=
NM_015384.5:c.*533C>T (NIPBL)	NP_056199.2:n.*533C>T