Canonical Allele Identifier: CA359522790

Gene: NIPBL CPLANE1

Linked Data

• MyVariant Identifiers: chr5:g.37064839C>A (hg19) ; chr5:g.37064737C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37064737C>A , CM000667.2:g.37064737C>A	GRCh38
NC_000005.9:g.37064839C>A , CM000667.1:g.37064839C>A	GRCh37
NC_000005.8:g.37100596C>A	NCBI36
NG_006987.1:g.192855C>A
NG_006987.2:g.192855C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.8260C>A (NIPBL) MANE Select	ENSP00000282516.8:p.Arg2754Ser
ENST00000652901.1:c.*204C>A (NIPBL)	ENSP00000499536.1:n.*204C>A
ENST00000282516.12:c.8260C>A (NIPBL)	ENSP00000282516.8:p.Arg2754Ser
ENST00000514335.1:n.2183C>A (NIPBL)
ENST00000621733.1:c.160C>A (NIPBL)	ENSP00000480694.1:p.Arg54Ser
NM_015384.4:c.*714C>A (NIPBL)	NP_056199.2:n.*714C>A
NM_133433.3:c.8260C>A (NIPBL)	NP_597677.2:p.Arg2754Ser
XM_005248280.2:c.*204C>A (NIPBL)	XP_005248337.1:n.*204C>A
XM_005248282.3:c.7516C>A (NIPBL)	XP_005248339.2:p.Arg2506Ser
XM_006714467.2:c.8113C>A (NIPBL)	XP_006714530.1:p.Arg2705Ser
XM_006714468.1:c.8062C>A (NIPBL)	XP_006714531.1:p.Arg2688Ser
XM_011514014.1:c.7879C>A (NIPBL)	XP_011512316.1:p.Arg2627Ser
XM_005248280.3:c.*204C>A (NIPBL)	XP_005248337.1:n.*204C>A
XM_005248282.5:c.7600C>A (NIPBL)	XP_005248339.3:p.Arg2534Ser
XM_006714468.2:c.8062C>A (NIPBL)	XP_006714531.1:p.Arg2688Ser
XM_017009329.1:c.*204C>A (NIPBL)	XP_016864818.1:n.*204C>A
XM_017009330.2:c.6643C>A (NIPBL)	XP_016864819.1:p.Arg2215Ser
XM_017009331.1:c.6634C>A (NIPBL)	XP_016864820.1:p.Arg2212Ser
XR_925644.2:n.11945G>T (CPLANE1)
NM_133433.4:c.8260C>A (NIPBL) MANE Select	NP_597677.2:p.Arg2754Ser
NM_015384.5:c.*714C>A (NIPBL)	NP_056199.2:n.*714C>A