Canonical Allele Identifier: CA3236304

Gene: NIPBL

Linked Data

• ClinVar Variation Id: 1729878
• ClinVar RCV Id: RCV002326177
• dbSNP Id: rs752294556
• ExAC: 5:36995897 G / A
• gnomAD v2: 5-36995897-G-A
• gnomAD v3: 5-36995795-G-A
• gnomAD v4: 5-36995795-G-A
• MyVariant Identifiers: chr5:g.36995897G>A (hg19) ; chr5:g.36995795G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36995795G>A , CM000667.2:g.36995795G>A	GRCh38
NC_000005.9:g.36995897G>A , CM000667.1:g.36995897G>A	GRCh37
NC_000005.8:g.37031654G>A	NCBI36
NG_006987.1:g.123913G>A
NG_006987.2:g.123913G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.3295G>A MANE Select	ENSP00000282516.8:p.Ala1099Thr
ENST00000652901.1:c.3295G>A	ENSP00000499536.1:p.Ala1099Thr
ENST00000282516.12:c.3295G>A	ENSP00000282516.8:p.Ala1099Thr
ENST00000448238.2:c.3295G>A	ENSP00000406266.2:p.Ala1099Thr
ENST00000503274.1:n.646G>A
ENST00000504430.5:n.2915G>A
ENST00000509429.1:n.46G>A
ENST00000621733.1:c.1-68783G>A	ENSP00000480694.1:n.1-68783G>A
NM_015384.4:c.3295G>A	NP_056199.2:p.Ala1099Thr
NM_133433.3:c.3295G>A	NP_597677.2:p.Ala1099Thr
XM_005248280.2:c.3295G>A	XP_005248337.1:p.Ala1099Thr
XM_005248282.3:c.2551G>A	XP_005248339.2:p.Ala851Thr
XM_006714467.2:c.3295G>A	XP_006714530.1:p.Ala1099Thr
XM_006714468.1:c.3295G>A	XP_006714531.1:p.Ala1099Thr
XM_011514014.1:c.3122-5022G>A	XP_011512316.1:n.3122-5022G>A
XM_011514015.1:c.3295G>A	XP_011512317.1:p.Ala1099Thr
XM_005248280.3:c.3295G>A	XP_005248337.1:p.Ala1099Thr
XM_005248282.5:c.2635G>A	XP_005248339.3:p.Ala879Thr
XM_006714468.2:c.3295G>A	XP_006714531.1:p.Ala1099Thr
XM_017009329.1:c.3295G>A	XP_016864818.1:p.Ala1099Thr
XM_017009330.2:c.1678G>A	XP_016864819.1:p.Ala560Thr
XM_017009331.1:c.1669G>A	XP_016864820.1:p.Ala557Thr
NM_133433.4:c.3295G>A MANE Select	NP_597677.2:p.Ala1099Thr
NM_015384.5:c.3295G>A	NP_056199.2:p.Ala1099Thr