Canonical Allele Identifier: CA3235979

Gene: NIPBL

Linked Data

• ClinVar Variation Id: 2854436
• ClinVar RCV Id: RCV003604970 ; RCV003939143
• dbSNP Id: rs370389105
• ExAC: 5:36976035 G / A
• gnomAD v2: 5-36976035-G-A
• gnomAD v3: 5-36975933-G-A
• gnomAD v4: 5-36975933-G-A
• MyVariant Identifiers: chr5:g.36976035G>A (hg19) ; chr5:g.36975933G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36975933G>A , CM000667.2:g.36975933G>A	GRCh38
NC_000005.9:g.36976035G>A , CM000667.1:g.36976035G>A	GRCh37
NC_000005.8:g.37011792G>A	NCBI36
NG_006987.1:g.104051G>A
NG_006987.2:g.104051G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.1026G>A MANE Select	ENSP00000282516.8:p.Ala342=
ENST00000652901.1:c.1026G>A	ENSP00000499536.1:p.Ala342=
ENST00000282516.12:c.1026G>A	ENSP00000282516.8:p.Ala342=
ENST00000448238.2:c.1026G>A	ENSP00000406266.2:p.Ala342=
ENST00000504430.5:n.646G>A
ENST00000621733.1:c.1-88645G>A	ENSP00000480694.1:n.1-88645G>A
NM_015384.4:c.1026G>A	NP_056199.2:p.Ala342=
NM_133433.3:c.1026G>A	NP_597677.2:p.Ala342=
XM_005248280.2:c.1026G>A	XP_005248337.1:p.Ala342=
XM_005248282.3:c.282G>A	XP_005248339.2:p.Ala94=
XM_006714467.2:c.1026G>A	XP_006714530.1:p.Ala342=
XM_006714468.1:c.1026G>A	XP_006714531.1:p.Ala342=
XM_011514014.1:c.1026G>A	XP_011512316.1:p.Ala342=
XM_011514015.1:c.1026G>A	XP_011512317.1:p.Ala342=
XM_005248280.3:c.1026G>A	XP_005248337.1:p.Ala342=
XM_005248282.5:c.366G>A	XP_005248339.3:p.Ala122=
XM_006714468.2:c.1026G>A	XP_006714531.1:p.Ala342=
XM_017009329.1:c.1026G>A	XP_016864818.1:p.Ala342=
XM_017009331.1:c.1026G>A	XP_016864820.1:p.Ala342=
NM_133433.4:c.1026G>A MANE Select	NP_597677.2:p.Ala342=
NM_015384.5:c.1026G>A	NP_056199.2:p.Ala342=