Canonical Allele Identifier: CA359505368

Gene: NIPBL

Linked Data

• ClinVar Variation Id: 2364566
• ClinVar RCV Id: RCV002984463 ; RCV003988075
• dbSNP Id: rs139833594
• gnomAD v3: 5-36985978-C-G
• gnomAD v4: 5-36985978-C-G
• MyVariant Identifiers: chr5:g.36986080C>G (hg19) ; chr5:g.36985978C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36985978C>G , CM000667.2:g.36985978C>G	GRCh38
NC_000005.9:g.36986080C>G , CM000667.1:g.36986080C>G	GRCh37
NC_000005.8:g.37021837C>G	NCBI36
NG_006987.1:g.114096C>G
NG_006987.2:g.114096C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.2798C>G MANE Select	ENSP00000282516.8:p.Ala933Gly
ENST00000652901.1:c.2798C>G	ENSP00000499536.1:p.Ala933Gly
ENST00000282516.12:c.2798C>G	ENSP00000282516.8:p.Ala933Gly
ENST00000448238.2:c.2798C>G	ENSP00000406266.2:p.Ala933Gly
ENST00000504430.5:n.2418C>G
ENST00000621733.1:c.1-78600C>G	ENSP00000480694.1:n.1-78600C>G
NM_015384.4:c.2798C>G	NP_056199.2:p.Ala933Gly
NM_133433.3:c.2798C>G	NP_597677.2:p.Ala933Gly
XM_005248280.2:c.2798C>G	XP_005248337.1:p.Ala933Gly
XM_005248282.3:c.2054C>G	XP_005248339.2:p.Ala685Gly
XM_006714467.2:c.2798C>G	XP_006714530.1:p.Ala933Gly
XM_006714468.1:c.2798C>G	XP_006714531.1:p.Ala933Gly
XM_011514014.1:c.2798C>G	XP_011512316.1:p.Ala933Gly
XM_011514015.1:c.2798C>G	XP_011512317.1:p.Ala933Gly
XM_005248280.3:c.2798C>G	XP_005248337.1:p.Ala933Gly
XM_005248282.5:c.2138C>G	XP_005248339.3:p.Ala713Gly
XM_006714468.2:c.2798C>G	XP_006714531.1:p.Ala933Gly
XM_017009329.1:c.2798C>G	XP_016864818.1:p.Ala933Gly
XM_017009330.2:c.1181C>G	XP_016864819.1:p.Ala394Gly
XM_017009331.1:c.1495+9576C>G	XP_016864820.1:n.1495+9576C>G
NM_133433.4:c.2798C>G MANE Select	NP_597677.2:p.Ala933Gly
NM_015384.5:c.2798C>G	NP_056199.2:p.Ala933Gly