Canonical Allele Identifier: CA359521831

Gene: NIPBL CPLANE1

Linked Data

• MyVariant Identifiers: chr5:g.37064650A>T (hg19) ; chr5:g.37064548A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37064548A>T , CM000667.2:g.37064548A>T	GRCh38
NC_000005.9:g.37064650A>T , CM000667.1:g.37064650A>T	GRCh37
NC_000005.8:g.37100407A>T	NCBI36
NG_006987.1:g.192666A>T
NG_006987.2:g.192666A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.8071A>T (NIPBL) MANE Select	ENSP00000282516.8:p.Asn2691Tyr
ENST00000652901.1:c.*15A>T (NIPBL)	ENSP00000499536.1:n.*15A>T
ENST00000282516.12:c.8071A>T (NIPBL)	ENSP00000282516.8:p.Asn2691Tyr
ENST00000514335.1:n.1994A>T (NIPBL)
ENST00000621733.1:c.1-30A>T (NIPBL)	ENSP00000480694.1:n.1-30A>T
NM_015384.4:c.*525A>T (NIPBL)	NP_056199.2:n.*525A>T
NM_133433.3:c.8071A>T (NIPBL)	NP_597677.2:p.Asn2691Tyr
XM_005248280.2:c.*15A>T (NIPBL)	XP_005248337.1:n.*15A>T
XM_005248282.3:c.7327A>T (NIPBL)	XP_005248339.2:p.Asn2443Tyr
XM_006714467.2:c.7924A>T (NIPBL)	XP_006714530.1:p.Asn2642Tyr
XM_006714468.1:c.7873A>T (NIPBL)	XP_006714531.1:p.Asn2625Tyr
XM_011514014.1:c.7690A>T (NIPBL)	XP_011512316.1:p.Asn2564Tyr
XM_005248280.3:c.*15A>T (NIPBL)	XP_005248337.1:n.*15A>T
XM_005248282.5:c.7411A>T (NIPBL)	XP_005248339.3:p.Asn2471Tyr
XM_006714468.2:c.7873A>T (NIPBL)	XP_006714531.1:p.Asn2625Tyr
XM_017009329.1:c.*15A>T (NIPBL)	XP_016864818.1:n.*15A>T
XM_017009330.2:c.6454A>T (NIPBL)	XP_016864819.1:p.Asn2152Tyr
XM_017009331.1:c.6445A>T (NIPBL)	XP_016864820.1:p.Asn2149Tyr
XR_925644.2:n.12134T>A (CPLANE1)
NM_133433.4:c.8071A>T (NIPBL) MANE Select	NP_597677.2:p.Asn2691Tyr
NM_015384.5:c.*525A>T (NIPBL)	NP_056199.2:n.*525A>T