Canonical Allele Identifier: CA3236741

Gene: NIPBL

Linked Data

• ClinVar Variation Id: 436003
• ClinVar RCV Id: RCV000501333 ; RCV001807275 ; RCV000923834 ; RCV002350121
• dbSNP Id: rs758853244
• ExAC: 5:37020946 G / A
• gnomAD v2: 5-37020946-G-A
• gnomAD v3: 5-37020844-G-A
• gnomAD v4: 5-37020844-G-A
• COSMIC: COSM4706984 ; COSM4706985
• MyVariant Identifiers: chr5:g.37020946G>A (hg19) ; chr5:g.37020844G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37020844G>A , CM000667.2:g.37020844G>A	GRCh38
NC_000005.9:g.37020946G>A , CM000667.1:g.37020946G>A	GRCh37
NC_000005.8:g.37056703G>A	NCBI36
NG_006987.1:g.148962G>A
NG_006987.2:g.148962G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.5295G>A MANE Select	ENSP00000282516.8:p.Pro1765=
ENST00000652901.1:c.5295G>A	ENSP00000499536.1:p.Pro1765=
ENST00000282516.12:c.5295G>A	ENSP00000282516.8:p.Pro1765=
ENST00000448238.2:c.5295G>A	ENSP00000406266.2:p.Pro1765=
ENST00000621733.1:c.1-43734G>A	ENSP00000480694.1:n.1-43734G>A
NM_015384.4:c.5295G>A	NP_056199.2:p.Pro1765=
NM_133433.3:c.5295G>A	NP_597677.2:p.Pro1765=
XM_005248280.2:c.5295G>A	XP_005248337.1:p.Pro1765=
XM_005248282.3:c.4551G>A	XP_005248339.2:p.Pro1517=
XM_006714467.2:c.5295G>A	XP_006714530.1:p.Pro1765=
XM_006714468.1:c.5097G>A	XP_006714531.1:p.Pro1699=
XM_011514014.1:c.4914G>A	XP_011512316.1:p.Pro1638=
XM_011514015.1:c.5295G>A	XP_011512317.1:p.Pro1765=
XM_005248280.3:c.5295G>A	XP_005248337.1:p.Pro1765=
XM_005248282.5:c.4635G>A	XP_005248339.3:p.Pro1545=
XM_006714468.2:c.5097G>A	XP_006714531.1:p.Pro1699=
XM_017009329.1:c.5295G>A	XP_016864818.1:p.Pro1765=
XM_017009330.2:c.3678G>A	XP_016864819.1:p.Pro1226=
XM_017009331.1:c.3669G>A	XP_016864820.1:p.Pro1223=
NM_133433.4:c.5295G>A MANE Select	NP_597677.2:p.Pro1765=
NM_015384.5:c.5295G>A	NP_056199.2:p.Pro1765=