Canonical Allele Identifier: CA359522661

Gene: NIPBL CPLANE1

Linked Data

• MyVariant Identifiers: chr5:g.37064815G>C (hg19) ; chr5:g.37064713G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37064713G>C , CM000667.2:g.37064713G>C	GRCh38
NC_000005.9:g.37064815G>C , CM000667.1:g.37064815G>C	GRCh37
NC_000005.8:g.37100572G>C	NCBI36
NG_006987.1:g.192831G>C
NG_006987.2:g.192831G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.8236G>C (NIPBL) MANE Select	ENSP00000282516.8:p.Gly2746Arg
ENST00000652901.1:c.*180G>C (NIPBL)	ENSP00000499536.1:n.*180G>C
ENST00000282516.12:c.8236G>C (NIPBL)	ENSP00000282516.8:p.Gly2746Arg
ENST00000514335.1:n.2159G>C (NIPBL)
ENST00000621733.1:c.136G>C (NIPBL)	ENSP00000480694.1:p.Gly46Arg
NM_015384.4:c.*690G>C (NIPBL)	NP_056199.2:n.*690G>C
NM_133433.3:c.8236G>C (NIPBL)	NP_597677.2:p.Gly2746Arg
XM_005248280.2:c.*180G>C (NIPBL)	XP_005248337.1:n.*180G>C
XM_005248282.3:c.7492G>C (NIPBL)	XP_005248339.2:p.Gly2498Arg
XM_006714467.2:c.8089G>C (NIPBL)	XP_006714530.1:p.Gly2697Arg
XM_006714468.1:c.8038G>C (NIPBL)	XP_006714531.1:p.Gly2680Arg
XM_011514014.1:c.7855G>C (NIPBL)	XP_011512316.1:p.Gly2619Arg
XM_005248280.3:c.*180G>C (NIPBL)	XP_005248337.1:n.*180G>C
XM_005248282.5:c.7576G>C (NIPBL)	XP_005248339.3:p.Gly2526Arg
XM_006714468.2:c.8038G>C (NIPBL)	XP_006714531.1:p.Gly2680Arg
XM_017009329.1:c.*180G>C (NIPBL)	XP_016864818.1:n.*180G>C
XM_017009330.2:c.6619G>C (NIPBL)	XP_016864819.1:p.Gly2207Arg
XM_017009331.1:c.6610G>C (NIPBL)	XP_016864820.1:p.Gly2204Arg
XR_925644.2:n.11969C>G (CPLANE1)
NM_133433.4:c.8236G>C (NIPBL) MANE Select	NP_597677.2:p.Gly2746Arg
NM_015384.5:c.*690G>C (NIPBL)	NP_056199.2:n.*690G>C