Canonical Allele Identifier: CA2578289908

Gene: NIPBL CPLANE1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37064293T>A , CM000667.2:g.37064293T>A	GRCh38
NC_000005.9:g.37064395T>A , CM000667.1:g.37064395T>A	GRCh37
NC_000005.8:g.37100152T>A	NCBI36
NG_006987.1:g.192411T>A
NG_006987.2:g.192411T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.8050-234T>A (NIPBL) MANE Select	ENSP00000282516.8:n.8050-234T>A
ENST00000652901.1:c.7944-234T>A (NIPBL)	ENSP00000499536.1:n.7944-234T>A
ENST00000282516.12:c.8050-234T>A (NIPBL)	ENSP00000282516.8:n.8050-234T>A
ENST00000514335.1:n.1973-234T>A (NIPBL)
ENST00000621733.1:c.1-285T>A (NIPBL)	ENSP00000480694.1:n.1-285T>A
NM_015384.4:c.*270T>A (NIPBL)	NP_056199.2:n.*270T>A
NM_133433.3:c.8050-234T>A (NIPBL)	NP_597677.2:n.8050-234T>A
XM_005248280.2:c.8091-234T>A (NIPBL)	XP_005248337.1:n.8091-234T>A
XM_005248282.3:c.7306-234T>A (NIPBL)	XP_005248339.2:n.7306-234T>A
XM_006714467.2:c.7903-234T>A (NIPBL)	XP_006714530.1:n.7903-234T>A
XM_006714468.1:c.7852-234T>A (NIPBL)	XP_006714531.1:n.7852-234T>A
XM_011514014.1:c.7669-234T>A (NIPBL)	XP_011512316.1:n.7669-234T>A
XM_005248280.3:c.8091-234T>A (NIPBL)	XP_005248337.1:n.8091-234T>A
XM_005248282.5:c.7390-234T>A (NIPBL)	XP_005248339.3:n.7390-234T>A
XM_006714468.2:c.7852-234T>A (NIPBL)	XP_006714531.1:n.7852-234T>A
XM_017009329.1:c.7944-234T>A (NIPBL)	XP_016864818.1:n.7944-234T>A
XM_017009330.2:c.6433-234T>A (NIPBL)	XP_016864819.1:n.6433-234T>A
XM_017009331.1:c.6424-234T>A (NIPBL)	XP_016864820.1:n.6424-234T>A
XR_925644.2:n.12389A>T (CPLANE1)
NM_133433.4:c.8050-234T>A (NIPBL) MANE Select	NP_597677.2:n.8050-234T>A
NM_015384.5:c.*270T>A (NIPBL)	NP_056199.2:n.*270T>A