Canonical Allele Identifier: CA359522401

Gene: NIPBL CPLANE1

Linked Data

• MyVariant Identifiers: chr5:g.37064749A>G (hg19) ; chr5:g.37064647A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37064647A>G , CM000667.2:g.37064647A>G	GRCh38
NC_000005.9:g.37064749A>G , CM000667.1:g.37064749A>G	GRCh37
NC_000005.8:g.37100506A>G	NCBI36
NG_006987.1:g.192765A>G
NG_006987.2:g.192765A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.8170A>G (NIPBL) MANE Select	ENSP00000282516.8:p.Ile2724Val
ENST00000652901.1:c.*114A>G (NIPBL)	ENSP00000499536.1:n.*114A>G
ENST00000282516.12:c.8170A>G (NIPBL)	ENSP00000282516.8:p.Ile2724Val
ENST00000514335.1:n.2093A>G (NIPBL)
ENST00000621733.1:c.70A>G (NIPBL)	ENSP00000480694.1:p.Ile24Val
NM_015384.4:c.*624A>G (NIPBL)	NP_056199.2:n.*624A>G
NM_133433.3:c.8170A>G (NIPBL)	NP_597677.2:p.Ile2724Val
XM_005248280.2:c.*114A>G (NIPBL)	XP_005248337.1:n.*114A>G
XM_005248282.3:c.7426A>G (NIPBL)	XP_005248339.2:p.Ile2476Val
XM_006714467.2:c.8023A>G (NIPBL)	XP_006714530.1:p.Ile2675Val
XM_006714468.1:c.7972A>G (NIPBL)	XP_006714531.1:p.Ile2658Val
XM_011514014.1:c.7789A>G (NIPBL)	XP_011512316.1:p.Ile2597Val
XM_005248280.3:c.*114A>G (NIPBL)	XP_005248337.1:n.*114A>G
XM_005248282.5:c.7510A>G (NIPBL)	XP_005248339.3:p.Ile2504Val
XM_006714468.2:c.7972A>G (NIPBL)	XP_006714531.1:p.Ile2658Val
XM_017009329.1:c.*114A>G (NIPBL)	XP_016864818.1:n.*114A>G
XM_017009330.2:c.6553A>G (NIPBL)	XP_016864819.1:p.Ile2185Val
XM_017009331.1:c.6544A>G (NIPBL)	XP_016864820.1:p.Ile2182Val
XR_925644.2:n.12035T>C (CPLANE1)
NM_133433.4:c.8170A>G (NIPBL) MANE Select	NP_597677.2:p.Ile2724Val
NM_015384.5:c.*624A>G (NIPBL)	NP_056199.2:n.*624A>G