Canonical Allele Identifier: CA359522210

Gene: NIPBL CPLANE1

Linked Data

• MyVariant Identifiers: chr5:g.37064704G>T (hg19) ; chr5:g.37064602G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37064602G>T , CM000667.2:g.37064602G>T	GRCh38
NC_000005.9:g.37064704G>T , CM000667.1:g.37064704G>T	GRCh37
NC_000005.8:g.37100461G>T	NCBI36
NG_006987.1:g.192720G>T
NG_006987.2:g.192720G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.8125G>T (NIPBL) MANE Select	ENSP00000282516.8:p.Asp2709Tyr
ENST00000652901.1:c.*69G>T (NIPBL)	ENSP00000499536.1:n.*69G>T
ENST00000282516.12:c.8125G>T (NIPBL)	ENSP00000282516.8:p.Asp2709Tyr
ENST00000514335.1:n.2048G>T (NIPBL)
ENST00000621733.1:c.25G>T (NIPBL)	ENSP00000480694.1:p.Asp9Tyr
NM_015384.4:c.*579G>T (NIPBL)	NP_056199.2:n.*579G>T
NM_133433.3:c.8125G>T (NIPBL)	NP_597677.2:p.Asp2709Tyr
XM_005248280.2:c.*69G>T (NIPBL)	XP_005248337.1:n.*69G>T
XM_005248282.3:c.7381G>T (NIPBL)	XP_005248339.2:p.Asp2461Tyr
XM_006714467.2:c.7978G>T (NIPBL)	XP_006714530.1:p.Asp2660Tyr
XM_006714468.1:c.7927G>T (NIPBL)	XP_006714531.1:p.Asp2643Tyr
XM_011514014.1:c.7744G>T (NIPBL)	XP_011512316.1:p.Asp2582Tyr
XM_005248280.3:c.*69G>T (NIPBL)	XP_005248337.1:n.*69G>T
XM_005248282.5:c.7465G>T (NIPBL)	XP_005248339.3:p.Asp2489Tyr
XM_006714468.2:c.7927G>T (NIPBL)	XP_006714531.1:p.Asp2643Tyr
XM_017009329.1:c.*69G>T (NIPBL)	XP_016864818.1:n.*69G>T
XM_017009330.2:c.6508G>T (NIPBL)	XP_016864819.1:p.Asp2170Tyr
XM_017009331.1:c.6499G>T (NIPBL)	XP_016864820.1:p.Asp2167Tyr
XR_925644.2:n.12080C>A (CPLANE1)
NM_133433.4:c.8125G>T (NIPBL) MANE Select	NP_597677.2:p.Asp2709Tyr
NM_015384.5:c.*579G>T (NIPBL)	NP_056199.2:n.*579G>T