Canonical Allele Identifier: CA359521982

Gene: NIPBL CPLANE1

Linked Data

• MyVariant Identifiers: chr5:g.37064669T>G (hg19) ; chr5:g.37064567T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37064567T>G , CM000667.2:g.37064567T>G	GRCh38
NC_000005.9:g.37064669T>G , CM000667.1:g.37064669T>G	GRCh37
NC_000005.8:g.37100426T>G	NCBI36
NG_006987.1:g.192685T>G
NG_006987.2:g.192685T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.8090T>G (NIPBL) MANE Select	ENSP00000282516.8:p.Leu2697Trp
ENST00000652901.1:c.*34T>G (NIPBL)	ENSP00000499536.1:n.*34T>G
ENST00000282516.12:c.8090T>G (NIPBL)	ENSP00000282516.8:p.Leu2697Trp
ENST00000514335.1:n.2013T>G (NIPBL)
ENST00000621733.1:c.1-11T>G (NIPBL)	ENSP00000480694.1:n.1-11T>G
NM_015384.4:c.*544T>G (NIPBL)	NP_056199.2:n.*544T>G
NM_133433.3:c.8090T>G (NIPBL)	NP_597677.2:p.Leu2697Trp
XM_005248280.2:c.*34T>G (NIPBL)	XP_005248337.1:n.*34T>G
XM_005248282.3:c.7346T>G (NIPBL)	XP_005248339.2:p.Leu2449Trp
XM_006714467.2:c.7943T>G (NIPBL)	XP_006714530.1:p.Leu2648Trp
XM_006714468.1:c.7892T>G (NIPBL)	XP_006714531.1:p.Leu2631Trp
XM_011514014.1:c.7709T>G (NIPBL)	XP_011512316.1:p.Leu2570Trp
XM_005248280.3:c.*34T>G (NIPBL)	XP_005248337.1:n.*34T>G
XM_005248282.5:c.7430T>G (NIPBL)	XP_005248339.3:p.Leu2477Trp
XM_006714468.2:c.7892T>G (NIPBL)	XP_006714531.1:p.Leu2631Trp
XM_017009329.1:c.*34T>G (NIPBL)	XP_016864818.1:n.*34T>G
XM_017009330.2:c.6473T>G (NIPBL)	XP_016864819.1:p.Leu2158Trp
XM_017009331.1:c.6464T>G (NIPBL)	XP_016864820.1:p.Leu2155Trp
XR_925644.2:n.12115A>C (CPLANE1)
NM_133433.4:c.8090T>G (NIPBL) MANE Select	NP_597677.2:p.Leu2697Trp
NM_015384.5:c.*544T>G (NIPBL)	NP_056199.2:n.*544T>G