Canonical Allele Identifier: CA359522748

Gene: NIPBL CPLANE1

Linked Data

• MyVariant Identifiers: chr5:g.37064833A>G (hg19) ; chr5:g.37064731A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37064731A>G , CM000667.2:g.37064731A>G	GRCh38
NC_000005.9:g.37064833A>G , CM000667.1:g.37064833A>G	GRCh37
NC_000005.8:g.37100590A>G	NCBI36
NG_006987.1:g.192849A>G
NG_006987.2:g.192849A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.8254A>G (NIPBL) MANE Select	ENSP00000282516.8:p.Lys2752Glu
ENST00000652901.1:c.*198A>G (NIPBL)	ENSP00000499536.1:n.*198A>G
ENST00000282516.12:c.8254A>G (NIPBL)	ENSP00000282516.8:p.Lys2752Glu
ENST00000514335.1:n.2177A>G (NIPBL)
ENST00000621733.1:c.154A>G (NIPBL)	ENSP00000480694.1:p.Lys52Glu
NM_015384.4:c.*708A>G (NIPBL)	NP_056199.2:n.*708A>G
NM_133433.3:c.8254A>G (NIPBL)	NP_597677.2:p.Lys2752Glu
XM_005248280.2:c.*198A>G (NIPBL)	XP_005248337.1:n.*198A>G
XM_005248282.3:c.7510A>G (NIPBL)	XP_005248339.2:p.Lys2504Glu
XM_006714467.2:c.8107A>G (NIPBL)	XP_006714530.1:p.Lys2703Glu
XM_006714468.1:c.8056A>G (NIPBL)	XP_006714531.1:p.Lys2686Glu
XM_011514014.1:c.7873A>G (NIPBL)	XP_011512316.1:p.Lys2625Glu
XM_005248280.3:c.*198A>G (NIPBL)	XP_005248337.1:n.*198A>G
XM_005248282.5:c.7594A>G (NIPBL)	XP_005248339.3:p.Lys2532Glu
XM_006714468.2:c.8056A>G (NIPBL)	XP_006714531.1:p.Lys2686Glu
XM_017009329.1:c.*198A>G (NIPBL)	XP_016864818.1:n.*198A>G
XM_017009330.2:c.6637A>G (NIPBL)	XP_016864819.1:p.Lys2213Glu
XM_017009331.1:c.6628A>G (NIPBL)	XP_016864820.1:p.Lys2210Glu
XR_925644.2:n.11951T>C (CPLANE1)
NM_133433.4:c.8254A>G (NIPBL) MANE Select	NP_597677.2:p.Lys2752Glu
NM_015384.5:c.*708A>G (NIPBL)	NP_056199.2:n.*708A>G