Canonical Allele Identifier: CA444096519

Gene: NIPBL CPLANE1

Linked Data

• MyVariant Identifiers: chr5:g.37064802A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37064700A>C , CM000667.2:g.37064700A>C	GRCh38
NC_000005.9:g.37064802A>C , CM000667.1:g.37064802A>C	GRCh37
NC_000005.8:g.37100559A>C	NCBI36
NG_006987.1:g.192818A>C
NG_006987.2:g.192818A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.8223A>C (NIPBL) MANE Select	ENSP00000282516.8:p.Ala2741=
ENST00000652901.1:c.*167A>C (NIPBL)	ENSP00000499536.1:n.*167A>C
ENST00000282516.12:c.8223A>C (NIPBL)	ENSP00000282516.8:p.Ala2741=
ENST00000514335.1:n.2146A>C (NIPBL)
ENST00000621733.1:c.123A>C (NIPBL)	ENSP00000480694.1:p.Ala41=
NM_015384.4:c.*677A>C (NIPBL)	NP_056199.2:n.*677A>C
NM_133433.3:c.8223A>C (NIPBL)	NP_597677.2:p.Ala2741=
XM_005248280.2:c.*167A>C (NIPBL)	XP_005248337.1:n.*167A>C
XM_005248282.3:c.7479A>C (NIPBL)	XP_005248339.2:p.Ala2493=
XM_006714467.2:c.8076A>C (NIPBL)	XP_006714530.1:p.Ala2692=
XM_006714468.1:c.8025A>C (NIPBL)	XP_006714531.1:p.Ala2675=
XM_011514014.1:c.7842A>C (NIPBL)	XP_011512316.1:p.Ala2614=
XM_005248280.3:c.*167A>C (NIPBL)	XP_005248337.1:n.*167A>C
XM_005248282.5:c.7563A>C (NIPBL)	XP_005248339.3:p.Ala2521=
XM_006714468.2:c.8025A>C (NIPBL)	XP_006714531.1:p.Ala2675=
XM_017009329.1:c.*167A>C (NIPBL)	XP_016864818.1:n.*167A>C
XM_017009330.2:c.6606A>C (NIPBL)	XP_016864819.1:p.Ala2202=
XM_017009331.1:c.6597A>C (NIPBL)	XP_016864820.1:p.Ala2199=
XR_925644.2:n.11982T>G (CPLANE1)
NM_133433.4:c.8223A>C (NIPBL) MANE Select	NP_597677.2:p.Ala2741=
NM_015384.5:c.*677A>C (NIPBL)	NP_056199.2:n.*677A>C