Canonical Allele Identifier: CA444096672

Gene: NIPBL CPLANE1

Linked Data

• MyVariant Identifiers: chr5:g.37064958A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37064856A>C , CM000667.2:g.37064856A>C	GRCh38
NC_000005.9:g.37064958A>C , CM000667.1:g.37064958A>C	GRCh37
NC_000005.8:g.37100715A>C	NCBI36
NG_006987.1:g.192974A>C
NG_006987.2:g.192974A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.8379A>C (NIPBL) MANE Select	ENSP00000282516.8:p.Arg2793=
ENST00000652901.1:c.*323A>C (NIPBL)	ENSP00000499536.1:n.*323A>C
ENST00000282516.12:c.8379A>C (NIPBL)	ENSP00000282516.8:p.Arg2793=
ENST00000514335.1:n.2302A>C (NIPBL)
ENST00000621733.1:c.279A>C (NIPBL)	ENSP00000480694.1:p.Arg93=
NM_015384.4:c.*833A>C (NIPBL)	NP_056199.2:n.*833A>C
NM_133433.3:c.8379A>C (NIPBL)	NP_597677.2:p.Arg2793=
XM_005248280.2:c.*323A>C (NIPBL)	XP_005248337.1:n.*323A>C
XM_005248282.3:c.7635A>C (NIPBL)	XP_005248339.2:p.Arg2545=
XM_006714467.2:c.8232A>C (NIPBL)	XP_006714530.1:p.Arg2744=
XM_006714468.1:c.8181A>C (NIPBL)	XP_006714531.1:p.Arg2727=
XM_011514014.1:c.7998A>C (NIPBL)	XP_011512316.1:p.Arg2666=
XM_005248280.3:c.*323A>C (NIPBL)	XP_005248337.1:n.*323A>C
XM_005248282.5:c.7719A>C (NIPBL)	XP_005248339.3:p.Arg2573=
XM_006714468.2:c.8181A>C (NIPBL)	XP_006714531.1:p.Arg2727=
XM_017009329.1:c.*323A>C (NIPBL)	XP_016864818.1:n.*323A>C
XM_017009330.2:c.6762A>C (NIPBL)	XP_016864819.1:p.Arg2254=
XM_017009331.1:c.6753A>C (NIPBL)	XP_016864820.1:p.Arg2251=
XR_925644.2:n.11826T>G (CPLANE1)
NM_133433.4:c.8379A>C (NIPBL) MANE Select	NP_597677.2:p.Arg2793=
NM_015384.5:c.*833A>C (NIPBL)	NP_056199.2:n.*833A>C