Canonical Allele Identifier: CA443916389

Gene: NIPBL CPLANE1

Linked Data

• MyVariant Identifiers: chr5:g.37064643A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37064541A>C , CM000667.2:g.37064541A>C	GRCh38
NC_000005.9:g.37064643A>C , CM000667.1:g.37064643A>C	GRCh37
NC_000005.8:g.37100400A>C	NCBI36
NG_006987.1:g.192659A>C
NG_006987.2:g.192659A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.8064A>C (NIPBL) MANE Select	ENSP00000282516.8:p.Ser2688=
ENST00000652901.1:c.*8A>C (NIPBL)	ENSP00000499536.1:n.*8A>C
ENST00000282516.12:c.8064A>C (NIPBL)	ENSP00000282516.8:p.Ser2688=
ENST00000514335.1:n.1987A>C (NIPBL)
ENST00000621733.1:c.1-37A>C (NIPBL)	ENSP00000480694.1:n.1-37A>C
NM_015384.4:c.*518A>C (NIPBL)	NP_056199.2:n.*518A>C
NM_133433.3:c.8064A>C (NIPBL)	NP_597677.2:p.Ser2688=
XM_005248280.2:c.*8A>C (NIPBL)	XP_005248337.1:n.*8A>C
XM_005248282.3:c.7320A>C (NIPBL)	XP_005248339.2:p.Ser2440=
XM_006714467.2:c.7917A>C (NIPBL)	XP_006714530.1:p.Ser2639=
XM_006714468.1:c.7866A>C (NIPBL)	XP_006714531.1:p.Ser2622=
XM_011514014.1:c.7683A>C (NIPBL)	XP_011512316.1:p.Ser2561=
XM_005248280.3:c.*8A>C (NIPBL)	XP_005248337.1:n.*8A>C
XM_005248282.5:c.7404A>C (NIPBL)	XP_005248339.3:p.Ser2468=
XM_006714468.2:c.7866A>C (NIPBL)	XP_006714531.1:p.Ser2622=
XM_017009329.1:c.*8A>C (NIPBL)	XP_016864818.1:n.*8A>C
XM_017009330.2:c.6447A>C (NIPBL)	XP_016864819.1:p.Ser2149=
XM_017009331.1:c.6438A>C (NIPBL)	XP_016864820.1:p.Ser2146=
XR_925644.2:n.12141T>G (CPLANE1)
NM_133433.4:c.8064A>C (NIPBL) MANE Select	NP_597677.2:p.Ser2688=
NM_015384.5:c.*518A>C (NIPBL)	NP_056199.2:n.*518A>C