Canonical Allele Identifier: CA359499776

Gene: NIPBL

Linked Data

• ClinVar Variation Id: 2099132
• ClinVar RCV Id: RCV003022851
• dbSNP Id: rs1218778836
• gnomAD v2: 5-36985509-C-T
• gnomAD v4: 5-36985407-C-T
• MyVariant Identifiers: chr5:g.36985509C>T (hg19) ; chr5:g.36985407C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36985407C>T , CM000667.2:g.36985407C>T	GRCh38
NC_000005.9:g.36985509C>T , CM000667.1:g.36985509C>T	GRCh37
NC_000005.8:g.37021266C>T	NCBI36
NG_006987.1:g.113525C>T
NG_006987.2:g.113525C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.2227C>T MANE Select	ENSP00000282516.8:p.Arg743Cys
ENST00000652901.1:c.2227C>T	ENSP00000499536.1:p.Arg743Cys
ENST00000282516.12:c.2227C>T	ENSP00000282516.8:p.Arg743Cys
ENST00000448238.2:c.2227C>T	ENSP00000406266.2:p.Arg743Cys
ENST00000504430.5:n.1847C>T
ENST00000621733.1:c.1-79171C>T	ENSP00000480694.1:n.1-79171C>T
NM_015384.4:c.2227C>T	NP_056199.2:p.Arg743Cys
NM_133433.3:c.2227C>T	NP_597677.2:p.Arg743Cys
XM_005248280.2:c.2227C>T	XP_005248337.1:p.Arg743Cys
XM_005248282.3:c.1483C>T	XP_005248339.2:p.Arg495Cys
XM_006714467.2:c.2227C>T	XP_006714530.1:p.Arg743Cys
XM_006714468.1:c.2227C>T	XP_006714531.1:p.Arg743Cys
XM_011514014.1:c.2227C>T	XP_011512316.1:p.Arg743Cys
XM_011514015.1:c.2227C>T	XP_011512317.1:p.Arg743Cys
XM_005248280.3:c.2227C>T	XP_005248337.1:p.Arg743Cys
XM_005248282.5:c.1567C>T	XP_005248339.3:p.Arg523Cys
XM_006714468.2:c.2227C>T	XP_006714531.1:p.Arg743Cys
XM_017009329.1:c.2227C>T	XP_016864818.1:p.Arg743Cys
XM_017009330.2:c.610C>T	XP_016864819.1:p.Arg204Cys
XM_017009331.1:c.1495+9005C>T	XP_016864820.1:n.1495+9005C>T
NM_133433.4:c.2227C>T MANE Select	NP_597677.2:p.Arg743Cys
NM_015384.5:c.2227C>T	NP_056199.2:p.Arg743Cys