Canonical Allele Identifier: CA359522722

Gene: NIPBL CPLANE1

Linked Data

• ClinVar Variation Id: 3031243
• ClinVar RCV Id: RCV003896844
• MyVariant Identifiers: chr5:g.37064828A>G (hg19) ; chr5:g.37064726A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37064726A>G , CM000667.2:g.37064726A>G	GRCh38
NC_000005.9:g.37064828A>G , CM000667.1:g.37064828A>G	GRCh37
NC_000005.8:g.37100585A>G	NCBI36
NG_006987.1:g.192844A>G
NG_006987.2:g.192844A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.8249A>G (NIPBL) MANE Select	ENSP00000282516.8:p.Glu2750Gly
ENST00000652901.1:c.*193A>G (NIPBL)	ENSP00000499536.1:n.*193A>G
ENST00000282516.12:c.8249A>G (NIPBL)	ENSP00000282516.8:p.Glu2750Gly
ENST00000514335.1:n.2172A>G (NIPBL)
ENST00000621733.1:c.149A>G (NIPBL)	ENSP00000480694.1:p.Glu50Gly
NM_015384.4:c.*703A>G (NIPBL)	NP_056199.2:n.*703A>G
NM_133433.3:c.8249A>G (NIPBL)	NP_597677.2:p.Glu2750Gly
XM_005248280.2:c.*193A>G (NIPBL)	XP_005248337.1:n.*193A>G
XM_005248282.3:c.7505A>G (NIPBL)	XP_005248339.2:p.Glu2502Gly
XM_006714467.2:c.8102A>G (NIPBL)	XP_006714530.1:p.Glu2701Gly
XM_006714468.1:c.8051A>G (NIPBL)	XP_006714531.1:p.Glu2684Gly
XM_011514014.1:c.7868A>G (NIPBL)	XP_011512316.1:p.Glu2623Gly
XM_005248280.3:c.*193A>G (NIPBL)	XP_005248337.1:n.*193A>G
XM_005248282.5:c.7589A>G (NIPBL)	XP_005248339.3:p.Glu2530Gly
XM_006714468.2:c.8051A>G (NIPBL)	XP_006714531.1:p.Glu2684Gly
XM_017009329.1:c.*193A>G (NIPBL)	XP_016864818.1:n.*193A>G
XM_017009330.2:c.6632A>G (NIPBL)	XP_016864819.1:p.Glu2211Gly
XM_017009331.1:c.6623A>G (NIPBL)	XP_016864820.1:p.Glu2208Gly
XR_925644.2:n.11956T>C (CPLANE1)
NM_133433.4:c.8249A>G (NIPBL) MANE Select	NP_597677.2:p.Glu2750Gly
NM_015384.5:c.*703A>G (NIPBL)	NP_056199.2:n.*703A>G