Canonical Allele Identifier: CA359522750

Gene: NIPBL CPLANE1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.8254A>T (NIPBL) MANE Select	ENSP00000282516.8:p.Lys2752Ter
ENST00000652901.1:c.*198A>T (NIPBL)	ENSP00000499536.1:n.*198A>T
ENST00000282516.12:c.8254A>T (NIPBL)	ENSP00000282516.8:p.Lys2752Ter
ENST00000514335.1:n.2177A>T (NIPBL)
ENST00000621733.1:c.154A>T (NIPBL)	ENSP00000480694.1:p.Lys52Ter
NM_015384.4:c.*708A>T (NIPBL)	NP_056199.2:n.*708A>T
NM_133433.3:c.8254A>T (NIPBL)	NP_597677.2:p.Lys2752Ter
XM_005248280.2:c.*198A>T (NIPBL)	XP_005248337.1:n.*198A>T
XM_005248282.3:c.7510A>T (NIPBL)	XP_005248339.2:p.Lys2504Ter
XM_006714467.2:c.8107A>T (NIPBL)	XP_006714530.1:p.Lys2703Ter
XM_006714468.1:c.8056A>T (NIPBL)	XP_006714531.1:p.Lys2686Ter
XM_011514014.1:c.7873A>T (NIPBL)	XP_011512316.1:p.Lys2625Ter
XM_005248280.3:c.*198A>T (NIPBL)	XP_005248337.1:n.*198A>T
XM_005248282.5:c.7594A>T (NIPBL)	XP_005248339.3:p.Lys2532Ter
XM_006714468.2:c.8056A>T (NIPBL)	XP_006714531.1:p.Lys2686Ter
XM_017009329.1:c.*198A>T (NIPBL)	XP_016864818.1:n.*198A>T
XM_017009330.2:c.6637A>T (NIPBL)	XP_016864819.1:p.Lys2213Ter
XM_017009331.1:c.6628A>T (NIPBL)	XP_016864820.1:p.Lys2210Ter
XR_925644.2:n.11951T>A (CPLANE1)
NM_133433.4:c.8254A>T (NIPBL) MANE Select	NP_597677.2:p.Lys2752Ter
NM_015384.5:c.*708A>T (NIPBL)	NP_056199.2:n.*708A>T