Canonical Allele Identifier: CA359521772

Gene: NIPBL CPLANE1

Linked Data

• MyVariant Identifiers: chr5:g.37064638A>T (hg19) ; chr5:g.37064536A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37064536A>T , CM000667.2:g.37064536A>T	GRCh38
NC_000005.9:g.37064638A>T , CM000667.1:g.37064638A>T	GRCh37
NC_000005.8:g.37100395A>T	NCBI36
NG_006987.1:g.192654A>T
NG_006987.2:g.192654A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.8059A>T (NIPBL) MANE Select	ENSP00000282516.8:p.Arg2687Trp
ENST00000652901.1:c.*3A>T (NIPBL)	ENSP00000499536.1:n.*3A>T
ENST00000282516.12:c.8059A>T (NIPBL)	ENSP00000282516.8:p.Arg2687Trp
ENST00000514335.1:n.1982A>T (NIPBL)
ENST00000621733.1:c.1-42A>T (NIPBL)	ENSP00000480694.1:n.1-42A>T
NM_015384.4:c.*513A>T (NIPBL)	NP_056199.2:n.*513A>T
NM_133433.3:c.8059A>T (NIPBL)	NP_597677.2:p.Arg2687Trp
XM_005248280.2:c.*3A>T (NIPBL)	XP_005248337.1:n.*3A>T
XM_005248282.3:c.7315A>T (NIPBL)	XP_005248339.2:p.Arg2439Trp
XM_006714467.2:c.7912A>T (NIPBL)	XP_006714530.1:p.Arg2638Trp
XM_006714468.1:c.7861A>T (NIPBL)	XP_006714531.1:p.Arg2621Trp
XM_011514014.1:c.7678A>T (NIPBL)	XP_011512316.1:p.Arg2560Trp
XM_005248280.3:c.*3A>T (NIPBL)	XP_005248337.1:n.*3A>T
XM_005248282.5:c.7399A>T (NIPBL)	XP_005248339.3:p.Arg2467Trp
XM_006714468.2:c.7861A>T (NIPBL)	XP_006714531.1:p.Arg2621Trp
XM_017009329.1:c.*3A>T (NIPBL)	XP_016864818.1:n.*3A>T
XM_017009330.2:c.6442A>T (NIPBL)	XP_016864819.1:p.Arg2148Trp
XM_017009331.1:c.6433A>T (NIPBL)	XP_016864820.1:p.Arg2145Trp
XR_925644.2:n.12146T>A (CPLANE1)
NM_133433.4:c.8059A>T (NIPBL) MANE Select	NP_597677.2:p.Arg2687Trp
NM_015384.5:c.*513A>T (NIPBL)	NP_056199.2:n.*513A>T