Canonical Allele Identifier: CA359521789

Gene: NIPBL CPLANE1

Linked Data

• MyVariant Identifiers: chr5:g.37064641T>C (hg19) ; chr5:g.37064539T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37064539T>C , CM000667.2:g.37064539T>C	GRCh38
NC_000005.9:g.37064641T>C , CM000667.1:g.37064641T>C	GRCh37
NC_000005.8:g.37100398T>C	NCBI36
NG_006987.1:g.192657T>C
NG_006987.2:g.192657T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.8062T>C (NIPBL) MANE Select	ENSP00000282516.8:p.Ser2688Pro
ENST00000652901.1:c.*6T>C (NIPBL)	ENSP00000499536.1:n.*6T>C
ENST00000282516.12:c.8062T>C (NIPBL)	ENSP00000282516.8:p.Ser2688Pro
ENST00000514335.1:n.1985T>C (NIPBL)
ENST00000621733.1:c.1-39T>C (NIPBL)	ENSP00000480694.1:n.1-39T>C
NM_015384.4:c.*516T>C (NIPBL)	NP_056199.2:n.*516T>C
NM_133433.3:c.8062T>C (NIPBL)	NP_597677.2:p.Ser2688Pro
XM_005248280.2:c.*6T>C (NIPBL)	XP_005248337.1:n.*6T>C
XM_005248282.3:c.7318T>C (NIPBL)	XP_005248339.2:p.Ser2440Pro
XM_006714467.2:c.7915T>C (NIPBL)	XP_006714530.1:p.Ser2639Pro
XM_006714468.1:c.7864T>C (NIPBL)	XP_006714531.1:p.Ser2622Pro
XM_011514014.1:c.7681T>C (NIPBL)	XP_011512316.1:p.Ser2561Pro
XM_005248280.3:c.*6T>C (NIPBL)	XP_005248337.1:n.*6T>C
XM_005248282.5:c.7402T>C (NIPBL)	XP_005248339.3:p.Ser2468Pro
XM_006714468.2:c.7864T>C (NIPBL)	XP_006714531.1:p.Ser2622Pro
XM_017009329.1:c.*6T>C (NIPBL)	XP_016864818.1:n.*6T>C
XM_017009330.2:c.6445T>C (NIPBL)	XP_016864819.1:p.Ser2149Pro
XM_017009331.1:c.6436T>C (NIPBL)	XP_016864820.1:p.Ser2146Pro
XR_925644.2:n.12143A>G (CPLANE1)
NM_133433.4:c.8062T>C (NIPBL) MANE Select	NP_597677.2:p.Ser2688Pro
NM_015384.5:c.*516T>C (NIPBL)	NP_056199.2:n.*516T>C