Canonical Allele Identifier: CA3236615

Gene: NIPBL

Linked Data

• ClinVar Variation Id: 353381
• ClinVar RCV Id: RCV000359993
• dbSNP Id: rs780708835
• ExAC: 5:37016195 C / A
• gnomAD v2: 5-37016195-C-A
• gnomAD v4: 5-37016093-C-A
• MyVariant Identifiers: chr5:g.37016195C>A (hg19) ; chr5:g.37016093C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37016093C>A , CM000667.2:g.37016093C>A	GRCh38
NC_000005.9:g.37016195C>A , CM000667.1:g.37016195C>A	GRCh37
NC_000005.8:g.37051952C>A	NCBI36
NG_006987.1:g.144211C>A
NG_006987.2:g.144211C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.4699C>A MANE Select	ENSP00000282516.8:p.Gln1567Lys
ENST00000652901.1:c.4699C>A	ENSP00000499536.1:p.Gln1567Lys
ENST00000282516.12:c.4699C>A	ENSP00000282516.8:p.Gln1567Lys
ENST00000448238.2:c.4699C>A	ENSP00000406266.2:p.Gln1567Lys
ENST00000621733.1:c.1-48485C>A	ENSP00000480694.1:n.1-48485C>A
NM_015384.4:c.4699C>A	NP_056199.2:p.Gln1567Lys
NM_133433.3:c.4699C>A	NP_597677.2:p.Gln1567Lys
XM_005248280.2:c.4699C>A	XP_005248337.1:p.Gln1567Lys
XM_005248282.3:c.3955C>A	XP_005248339.2:p.Gln1319Lys
XM_006714467.2:c.4699C>A	XP_006714530.1:p.Gln1567Lys
XM_006714468.1:c.4501C>A	XP_006714531.1:p.Gln1501Lys
XM_011514014.1:c.4318C>A	XP_011512316.1:p.Gln1440Lys
XM_011514015.1:c.4699C>A	XP_011512317.1:p.Gln1567Lys
XM_005248280.3:c.4699C>A	XP_005248337.1:p.Gln1567Lys
XM_005248282.5:c.4039C>A	XP_005248339.3:p.Gln1347Lys
XM_006714468.2:c.4501C>A	XP_006714531.1:p.Gln1501Lys
XM_017009329.1:c.4699C>A	XP_016864818.1:p.Gln1567Lys
XM_017009330.2:c.3082C>A	XP_016864819.1:p.Gln1028Lys
XM_017009331.1:c.3073C>A	XP_016864820.1:p.Gln1025Lys
NM_133433.4:c.4699C>A MANE Select	NP_597677.2:p.Gln1567Lys
NM_015384.5:c.4699C>A	NP_056199.2:p.Gln1567Lys