Canonical Allele Identifier: CA359494031

Gene: NIPBL

Linked Data

• ClinVar Variation Id: 1706347
• ClinVar RCV Id: RCV002284877 ; RCV002400415
• dbSNP Id: rs1267072334
• gnomAD v4: 5-36984870-A-G
• MyVariant Identifiers: chr5:g.36984972A>G (hg19) ; chr5:g.36984870A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36984870A>G , CM000667.2:g.36984870A>G	GRCh38
NC_000005.9:g.36984972A>G , CM000667.1:g.36984972A>G	GRCh37
NC_000005.8:g.37020729A>G	NCBI36
NG_006987.1:g.112988A>G
NG_006987.2:g.112988A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.1690A>G MANE Select	ENSP00000282516.8:p.Ile564Val
ENST00000652901.1:c.1690A>G	ENSP00000499536.1:p.Ile564Val
ENST00000282516.12:c.1690A>G	ENSP00000282516.8:p.Ile564Val
ENST00000448238.2:c.1690A>G	ENSP00000406266.2:p.Ile564Val
ENST00000504430.5:n.1310A>G
ENST00000621733.1:c.1-79708A>G	ENSP00000480694.1:n.1-79708A>G
NM_015384.4:c.1690A>G	NP_056199.2:p.Ile564Val
NM_133433.3:c.1690A>G	NP_597677.2:p.Ile564Val
XM_005248280.2:c.1690A>G	XP_005248337.1:p.Ile564Val
XM_005248282.3:c.946A>G	XP_005248339.2:p.Ile316Val
XM_006714467.2:c.1690A>G	XP_006714530.1:p.Ile564Val
XM_006714468.1:c.1690A>G	XP_006714531.1:p.Ile564Val
XM_011514014.1:c.1690A>G	XP_011512316.1:p.Ile564Val
XM_011514015.1:c.1690A>G	XP_011512317.1:p.Ile564Val
XM_005248280.3:c.1690A>G	XP_005248337.1:p.Ile564Val
XM_005248282.5:c.1030A>G	XP_005248339.3:p.Ile344Val
XM_006714468.2:c.1690A>G	XP_006714531.1:p.Ile564Val
XM_017009329.1:c.1690A>G	XP_016864818.1:p.Ile564Val
XM_017009330.2:c.73A>G	XP_016864819.1:p.Ile25Val
XM_017009331.1:c.1495+8468A>G	XP_016864820.1:n.1495+8468A>G
NM_133433.4:c.1690A>G MANE Select	NP_597677.2:p.Ile564Val
NM_015384.5:c.1690A>G	NP_056199.2:p.Ile564Val