Canonical Allele Identifier: CA359523885

Gene: NIPBL CPLANE1

Linked Data

• MyVariant Identifiers: chr5:g.37064976G>T (hg19) ; chr5:g.37064874G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37064874G>T , CM000667.2:g.37064874G>T	GRCh38
NC_000005.9:g.37064976G>T , CM000667.1:g.37064976G>T	GRCh37
NC_000005.8:g.37100733G>T	NCBI36
NG_006987.1:g.192992G>T
NG_006987.2:g.192992G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.8397G>T (NIPBL) MANE Select	ENSP00000282516.8:p.Lys2799Asn
ENST00000652901.1:c.*341G>T (NIPBL)	ENSP00000499536.1:n.*341G>T
ENST00000282516.12:c.8397G>T (NIPBL)	ENSP00000282516.8:p.Lys2799Asn
ENST00000514335.1:n.2320G>T (NIPBL)
ENST00000621733.1:c.297G>T (NIPBL)	ENSP00000480694.1:p.Lys99Asn
NM_015384.4:c.*851G>T (NIPBL)	NP_056199.2:n.*851G>T
NM_133433.3:c.8397G>T (NIPBL)	NP_597677.2:p.Lys2799Asn
XM_005248280.2:c.*341G>T (NIPBL)	XP_005248337.1:n.*341G>T
XM_005248282.3:c.7653G>T (NIPBL)	XP_005248339.2:p.Lys2551Asn
XM_006714467.2:c.8250G>T (NIPBL)	XP_006714530.1:p.Lys2750Asn
XM_006714468.1:c.8199G>T (NIPBL)	XP_006714531.1:p.Lys2733Asn
XM_011514014.1:c.8016G>T (NIPBL)	XP_011512316.1:p.Lys2672Asn
XM_005248280.3:c.*341G>T (NIPBL)	XP_005248337.1:n.*341G>T
XM_005248282.5:c.7737G>T (NIPBL)	XP_005248339.3:p.Lys2579Asn
XM_006714468.2:c.8199G>T (NIPBL)	XP_006714531.1:p.Lys2733Asn
XM_017009329.1:c.*341G>T (NIPBL)	XP_016864818.1:n.*341G>T
XM_017009330.2:c.6780G>T (NIPBL)	XP_016864819.1:p.Lys2260Asn
XM_017009331.1:c.6771G>T (NIPBL)	XP_016864820.1:p.Lys2257Asn
XR_925644.2:n.11808C>A (CPLANE1)
NM_133433.4:c.8397G>T (NIPBL) MANE Select	NP_597677.2:p.Lys2799Asn
NM_015384.5:c.*851G>T (NIPBL)	NP_056199.2:n.*851G>T