Canonical Allele Identifier: CA359522179

Gene: NIPBL CPLANE1

Linked Data

• MyVariant Identifiers: chr5:g.37064699T>C (hg19) ; chr5:g.37064597T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37064597T>C , CM000667.2:g.37064597T>C	GRCh38
NC_000005.9:g.37064699T>C , CM000667.1:g.37064699T>C	GRCh37
NC_000005.8:g.37100456T>C	NCBI36
NG_006987.1:g.192715T>C
NG_006987.2:g.192715T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.8120T>C (NIPBL) MANE Select	ENSP00000282516.8:p.Val2707Ala
ENST00000652901.1:c.*64T>C (NIPBL)	ENSP00000499536.1:n.*64T>C
ENST00000282516.12:c.8120T>C (NIPBL)	ENSP00000282516.8:p.Val2707Ala
ENST00000514335.1:n.2043T>C (NIPBL)
ENST00000621733.1:c.20T>C (NIPBL)	ENSP00000480694.1:p.Val7Ala
NM_015384.4:c.*574T>C (NIPBL)	NP_056199.2:n.*574T>C
NM_133433.3:c.8120T>C (NIPBL)	NP_597677.2:p.Val2707Ala
XM_005248280.2:c.*64T>C (NIPBL)	XP_005248337.1:n.*64T>C
XM_005248282.3:c.7376T>C (NIPBL)	XP_005248339.2:p.Val2459Ala
XM_006714467.2:c.7973T>C (NIPBL)	XP_006714530.1:p.Val2658Ala
XM_006714468.1:c.7922T>C (NIPBL)	XP_006714531.1:p.Val2641Ala
XM_011514014.1:c.7739T>C (NIPBL)	XP_011512316.1:p.Val2580Ala
XM_005248280.3:c.*64T>C (NIPBL)	XP_005248337.1:n.*64T>C
XM_005248282.5:c.7460T>C (NIPBL)	XP_005248339.3:p.Val2487Ala
XM_006714468.2:c.7922T>C (NIPBL)	XP_006714531.1:p.Val2641Ala
XM_017009329.1:c.*64T>C (NIPBL)	XP_016864818.1:n.*64T>C
XM_017009330.2:c.6503T>C (NIPBL)	XP_016864819.1:p.Val2168Ala
XM_017009331.1:c.6494T>C (NIPBL)	XP_016864820.1:p.Val2165Ala
XR_925644.2:n.12085A>G (CPLANE1)
NM_133433.4:c.8120T>C (NIPBL) MANE Select	NP_597677.2:p.Val2707Ala
NM_015384.5:c.*574T>C (NIPBL)	NP_056199.2:n.*574T>C