Canonical Allele Identifier: CA3237310

Gene: NIPBL CPLANE1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37063985C>T , CM000667.2:g.37063985C>T	GRCh38
NC_000005.9:g.37064087C>T , CM000667.1:g.37064087C>T	GRCh37
NC_000005.8:g.37099844C>T	NCBI36
NG_006987.1:g.192103C>T
NG_006987.2:g.192103C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.8049+7C>T (NIPBL) MANE Select	ENSP00000282516.8:n.8049+7C>T
ENST00000652901.1:c.7909C>T (NIPBL)	ENSP00000499536.1:p.Arg2637Trp
ENST00000282516.12:c.8049+7C>T (NIPBL)	ENSP00000282516.8:n.8049+7C>T
ENST00000448238.2:c.8056C>T (NIPBL)	ENSP00000406266.2:p.Arg2686Trp
ENST00000514335.1:n.1938C>T (NIPBL)
ENST00000621733.1:c.1-593C>T (NIPBL)	ENSP00000480694.1:n.1-593C>T
NM_015384.4:c.8056C>T (NIPBL)	NP_056199.2:p.Arg2686Trp
NM_133433.3:c.8049+7C>T (NIPBL)	NP_597677.2:n.8049+7C>T
XM_005248280.2:c.8056C>T (NIPBL)	XP_005248337.1:p.Arg2686Trp
XM_005248282.3:c.7305+7C>T (NIPBL)	XP_005248339.2:n.7305+7C>T
XM_006714467.2:c.7902+7C>T (NIPBL)	XP_006714530.1:n.7902+7C>T
XM_006714468.1:c.7851+7C>T (NIPBL)	XP_006714531.1:n.7851+7C>T
XM_011514014.1:c.7668+7C>T (NIPBL)	XP_011512316.1:n.7668+7C>T
XM_005248280.3:c.8056C>T (NIPBL)	XP_005248337.1:p.Arg2686Trp
XM_005248282.5:c.7389+7C>T (NIPBL)	XP_005248339.3:n.7389+7C>T
XM_006714468.2:c.7851+7C>T (NIPBL)	XP_006714531.1:n.7851+7C>T
XM_017009329.1:c.7909C>T (NIPBL)	XP_016864818.1:p.Arg2637Trp
XM_017009330.2:c.6432+7C>T (NIPBL)	XP_016864819.1:n.6432+7C>T
XM_017009331.1:c.6423+7C>T (NIPBL)	XP_016864820.1:n.6423+7C>T
XR_925644.2:n.12697G>A (CPLANE1)
NM_133433.4:c.8049+7C>T (NIPBL) MANE Select	NP_597677.2:n.8049+7C>T
NM_015384.5:c.8056C>T (NIPBL)	NP_056199.2:p.Arg2686Trp