Canonical Allele Identifier: CA359522630

Gene: NIPBL CPLANE1

Linked Data

• MyVariant Identifiers: chr5:g.37064810A>G (hg19) ; chr5:g.37064708A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37064708A>G , CM000667.2:g.37064708A>G	GRCh38
NC_000005.9:g.37064810A>G , CM000667.1:g.37064810A>G	GRCh37
NC_000005.8:g.37100567A>G	NCBI36
NG_006987.1:g.192826A>G
NG_006987.2:g.192826A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.8231A>G (NIPBL) MANE Select	ENSP00000282516.8:p.Tyr2744Cys
ENST00000652901.1:c.*175A>G (NIPBL)	ENSP00000499536.1:n.*175A>G
ENST00000282516.12:c.8231A>G (NIPBL)	ENSP00000282516.8:p.Tyr2744Cys
ENST00000514335.1:n.2154A>G (NIPBL)
ENST00000621733.1:c.131A>G (NIPBL)	ENSP00000480694.1:p.Tyr44Cys
NM_015384.4:c.*685A>G (NIPBL)	NP_056199.2:n.*685A>G
NM_133433.3:c.8231A>G (NIPBL)	NP_597677.2:p.Tyr2744Cys
XM_005248280.2:c.*175A>G (NIPBL)	XP_005248337.1:n.*175A>G
XM_005248282.3:c.7487A>G (NIPBL)	XP_005248339.2:p.Tyr2496Cys
XM_006714467.2:c.8084A>G (NIPBL)	XP_006714530.1:p.Tyr2695Cys
XM_006714468.1:c.8033A>G (NIPBL)	XP_006714531.1:p.Tyr2678Cys
XM_011514014.1:c.7850A>G (NIPBL)	XP_011512316.1:p.Tyr2617Cys
XM_005248280.3:c.*175A>G (NIPBL)	XP_005248337.1:n.*175A>G
XM_005248282.5:c.7571A>G (NIPBL)	XP_005248339.3:p.Tyr2524Cys
XM_006714468.2:c.8033A>G (NIPBL)	XP_006714531.1:p.Tyr2678Cys
XM_017009329.1:c.*175A>G (NIPBL)	XP_016864818.1:n.*175A>G
XM_017009330.2:c.6614A>G (NIPBL)	XP_016864819.1:p.Tyr2205Cys
XM_017009331.1:c.6605A>G (NIPBL)	XP_016864820.1:p.Tyr2202Cys
XR_925644.2:n.11974T>C (CPLANE1)
NM_133433.4:c.8231A>G (NIPBL) MANE Select	NP_597677.2:p.Tyr2744Cys
NM_015384.5:c.*685A>G (NIPBL)	NP_056199.2:n.*685A>G