Canonical Allele Identifier: CA359522703

Gene: NIPBL CPLANE1

Linked Data

• MyVariant Identifiers: chr5:g.37064823G>C (hg19) ; chr5:g.37064721G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37064721G>C , CM000667.2:g.37064721G>C	GRCh38
NC_000005.9:g.37064823G>C , CM000667.1:g.37064823G>C	GRCh37
NC_000005.8:g.37100580G>C	NCBI36
NG_006987.1:g.192839G>C
NG_006987.2:g.192839G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.8244G>C (NIPBL) MANE Select	ENSP00000282516.8:p.Trp2748Cys
ENST00000652901.1:c.*188G>C (NIPBL)	ENSP00000499536.1:n.*188G>C
ENST00000282516.12:c.8244G>C (NIPBL)	ENSP00000282516.8:p.Trp2748Cys
ENST00000514335.1:n.2167G>C (NIPBL)
ENST00000621733.1:c.144G>C (NIPBL)	ENSP00000480694.1:p.Trp48Cys
NM_015384.4:c.*698G>C (NIPBL)	NP_056199.2:n.*698G>C
NM_133433.3:c.8244G>C (NIPBL)	NP_597677.2:p.Trp2748Cys
XM_005248280.2:c.*188G>C (NIPBL)	XP_005248337.1:n.*188G>C
XM_005248282.3:c.7500G>C (NIPBL)	XP_005248339.2:p.Trp2500Cys
XM_006714467.2:c.8097G>C (NIPBL)	XP_006714530.1:p.Trp2699Cys
XM_006714468.1:c.8046G>C (NIPBL)	XP_006714531.1:p.Trp2682Cys
XM_011514014.1:c.7863G>C (NIPBL)	XP_011512316.1:p.Trp2621Cys
XM_005248280.3:c.*188G>C (NIPBL)	XP_005248337.1:n.*188G>C
XM_005248282.5:c.7584G>C (NIPBL)	XP_005248339.3:p.Trp2528Cys
XM_006714468.2:c.8046G>C (NIPBL)	XP_006714531.1:p.Trp2682Cys
XM_017009329.1:c.*188G>C (NIPBL)	XP_016864818.1:n.*188G>C
XM_017009330.2:c.6627G>C (NIPBL)	XP_016864819.1:p.Trp2209Cys
XM_017009331.1:c.6618G>C (NIPBL)	XP_016864820.1:p.Trp2206Cys
XR_925644.2:n.11961C>G (CPLANE1)
NM_133433.4:c.8244G>C (NIPBL) MANE Select	NP_597677.2:p.Trp2748Cys
NM_015384.5:c.*698G>C (NIPBL)	NP_056199.2:n.*698G>C