Canonical Allele Identifier: CA443916433

Gene: NIPBL CPLANE1

Linked Data

• MyVariant Identifiers: chr5:g.37064694T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37064592T>C , CM000667.2:g.37064592T>C	GRCh38
NC_000005.9:g.37064694T>C , CM000667.1:g.37064694T>C	GRCh37
NC_000005.8:g.37100451T>C	NCBI36
NG_006987.1:g.192710T>C
NG_006987.2:g.192710T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.8115T>C (NIPBL) MANE Select	ENSP00000282516.8:p.Val2705=
ENST00000652901.1:c.*59T>C (NIPBL)	ENSP00000499536.1:n.*59T>C
ENST00000282516.12:c.8115T>C (NIPBL)	ENSP00000282516.8:p.Val2705=
ENST00000514335.1:n.2038T>C (NIPBL)
ENST00000621733.1:c.15T>C (NIPBL)	ENSP00000480694.1:p.Val5=
NM_015384.4:c.*569T>C (NIPBL)	NP_056199.2:n.*569T>C
NM_133433.3:c.8115T>C (NIPBL)	NP_597677.2:p.Val2705=
XM_005248280.2:c.*59T>C (NIPBL)	XP_005248337.1:n.*59T>C
XM_005248282.3:c.7371T>C (NIPBL)	XP_005248339.2:p.Val2457=
XM_006714467.2:c.7968T>C (NIPBL)	XP_006714530.1:p.Val2656=
XM_006714468.1:c.7917T>C (NIPBL)	XP_006714531.1:p.Val2639=
XM_011514014.1:c.7734T>C (NIPBL)	XP_011512316.1:p.Val2578=
XM_005248280.3:c.*59T>C (NIPBL)	XP_005248337.1:n.*59T>C
XM_005248282.5:c.7455T>C (NIPBL)	XP_005248339.3:p.Val2485=
XM_006714468.2:c.7917T>C (NIPBL)	XP_006714531.1:p.Val2639=
XM_017009329.1:c.*59T>C (NIPBL)	XP_016864818.1:n.*59T>C
XM_017009330.2:c.6498T>C (NIPBL)	XP_016864819.1:p.Val2166=
XM_017009331.1:c.6489T>C (NIPBL)	XP_016864820.1:p.Val2163=
XR_925644.2:n.12090A>G (CPLANE1)
NM_133433.4:c.8115T>C (NIPBL) MANE Select	NP_597677.2:p.Val2705=
NM_015384.5:c.*569T>C (NIPBL)	NP_056199.2:n.*569T>C