Canonical Allele Identifier: CA359521742

Gene: NIPBL CPLANE1

Linked Data

• dbSNP Id: rs1416879242
• gnomAD v3: 5-37064530-T-G
• gnomAD v4: 5-37064530-T-G
• MyVariant Identifiers: chr5:g.37064632T>G (hg19) ; chr5:g.37064530T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37064530T>G , CM000667.2:g.37064530T>G	GRCh38
NC_000005.9:g.37064632T>G , CM000667.1:g.37064632T>G	GRCh37
NC_000005.8:g.37100389T>G	NCBI36
NG_006987.1:g.192648T>G
NG_006987.2:g.192648T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.8053T>G (NIPBL) MANE Select	ENSP00000282516.8:p.Leu2685Val
ENST00000652901.1:c.7947T>G (NIPBL)	ENSP00000499536.1:p.His2649Gln
ENST00000282516.12:c.8053T>G (NIPBL)	ENSP00000282516.8:p.Leu2685Val
ENST00000514335.1:n.1976T>G (NIPBL)
ENST00000621733.1:c.1-48T>G (NIPBL)	ENSP00000480694.1:n.1-48T>G
NM_015384.4:c.*507T>G (NIPBL)	NP_056199.2:n.*507T>G
NM_133433.3:c.8053T>G (NIPBL)	NP_597677.2:p.Leu2685Val
XM_005248280.2:c.8094T>G (NIPBL)	XP_005248337.1:p.His2698Gln
XM_005248282.3:c.7309T>G (NIPBL)	XP_005248339.2:p.Leu2437Val
XM_006714467.2:c.7906T>G (NIPBL)	XP_006714530.1:p.Leu2636Val
XM_006714468.1:c.7855T>G (NIPBL)	XP_006714531.1:p.Leu2619Val
XM_011514014.1:c.7672T>G (NIPBL)	XP_011512316.1:p.Leu2558Val
XM_005248280.3:c.8094T>G (NIPBL)	XP_005248337.1:p.His2698Gln
XM_005248282.5:c.7393T>G (NIPBL)	XP_005248339.3:p.Leu2465Val
XM_006714468.2:c.7855T>G (NIPBL)	XP_006714531.1:p.Leu2619Val
XM_017009329.1:c.7947T>G (NIPBL)	XP_016864818.1:p.His2649Gln
XM_017009330.2:c.6436T>G (NIPBL)	XP_016864819.1:p.Leu2146Val
XM_017009331.1:c.6427T>G (NIPBL)	XP_016864820.1:p.Leu2143Val
XR_925644.2:n.12152A>C (CPLANE1)
NM_133433.4:c.8053T>G (NIPBL) MANE Select	NP_597677.2:p.Leu2685Val
NM_015384.5:c.*507T>G (NIPBL)	NP_056199.2:n.*507T>G