Canonical Allele Identifier: CA3236623

Gene: NIPBL

Linked Data

• ClinVar Variation Id: 353382
• ClinVar RCV Id: RCV000267661
• dbSNP Id: rs199632698
• ExAC: 5:37016284 G / A
• gnomAD v2: 5-37016284-G-A
• gnomAD v3: 5-37016182-G-A
• gnomAD v4: 5-37016182-G-A
• MyVariant Identifiers: chr5:g.37016284G>A (hg19) ; chr5:g.37016182G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37016182G>A , CM000667.2:g.37016182G>A	GRCh38
NC_000005.9:g.37016284G>A , CM000667.1:g.37016284G>A	GRCh37
NC_000005.8:g.37052041G>A	NCBI36
NG_006987.1:g.144300G>A
NG_006987.2:g.144300G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.4776+12G>A MANE Select	ENSP00000282516.8:n.4776+12G>A
ENST00000652901.1:c.4776+12G>A	ENSP00000499536.1:n.4776+12G>A
ENST00000282516.12:c.4776+12G>A	ENSP00000282516.8:n.4776+12G>A
ENST00000448238.2:c.4776+12G>A	ENSP00000406266.2:n.4776+12G>A
ENST00000621733.1:c.1-48396G>A	ENSP00000480694.1:n.1-48396G>A
NM_015384.4:c.4776+12G>A	NP_056199.2:n.4776+12G>A
NM_133433.3:c.4776+12G>A	NP_597677.2:n.4776+12G>A
XM_005248280.2:c.4776+12G>A	XP_005248337.1:n.4776+12G>A
XM_005248282.3:c.4032+12G>A	XP_005248339.2:n.4032+12G>A
XM_006714467.2:c.4776+12G>A	XP_006714530.1:n.4776+12G>A
XM_006714468.1:c.4578+12G>A	XP_006714531.1:n.4578+12G>A
XM_011514014.1:c.4395+12G>A	XP_011512316.1:n.4395+12G>A
XM_011514015.1:c.4776+12G>A	XP_011512317.1:n.4776+12G>A
XM_005248280.3:c.4776+12G>A	XP_005248337.1:n.4776+12G>A
XM_005248282.5:c.4116+12G>A	XP_005248339.3:n.4116+12G>A
XM_006714468.2:c.4578+12G>A	XP_006714531.1:n.4578+12G>A
XM_017009329.1:c.4776+12G>A	XP_016864818.1:n.4776+12G>A
XM_017009330.2:c.3159+12G>A	XP_016864819.1:n.3159+12G>A
XM_017009331.1:c.3150+12G>A	XP_016864820.1:n.3150+12G>A
NM_133433.4:c.4776+12G>A MANE Select	NP_597677.2:n.4776+12G>A
NM_015384.5:c.4776+12G>A	NP_056199.2:n.4776+12G>A