Canonical Allele Identifier: CA359518381

Gene: NIPBL

Linked Data

• MyVariant Identifiers: chr5:g.37060975C>G (hg19) ; chr5:g.37060873C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37060873C>G , CM000667.2:g.37060873C>G	GRCh38
NC_000005.9:g.37060975C>G , CM000667.1:g.37060975C>G	GRCh37
NC_000005.8:g.37096732C>G	NCBI36
NG_006987.1:g.188991C>G
NG_006987.2:g.188991C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.7715C>G MANE Select	ENSP00000282516.8:p.Ser2572Cys
ENST00000652901.1:c.7568C>G	ENSP00000499536.1:p.Ser2523Cys
ENST00000282516.12:c.7715C>G	ENSP00000282516.8:p.Ser2572Cys
ENST00000448238.2:c.7715C>G	ENSP00000406266.2:p.Ser2572Cys
ENST00000513819.1:c.263+1708C>G	ENSP00000421504.1:n.263+1708C>G
ENST00000514335.1:n.1597C>G
ENST00000621733.1:c.1-3705C>G	ENSP00000480694.1:n.1-3705C>G
NM_015384.4:c.7715C>G	NP_056199.2:p.Ser2572Cys
NM_133433.3:c.7715C>G	NP_597677.2:p.Ser2572Cys
XM_005248280.2:c.7715C>G	XP_005248337.1:p.Ser2572Cys
XM_005248282.3:c.6971C>G	XP_005248339.2:p.Ser2324Cys
XM_006714467.2:c.7568C>G	XP_006714530.1:p.Ser2523Cys
XM_006714468.1:c.7517C>G	XP_006714531.1:p.Ser2506Cys
XM_011514014.1:c.7334C>G	XP_011512316.1:p.Ser2445Cys
XM_011514015.1:c.*27C>G	XP_011512317.1:n.*27C>G
XM_005248280.3:c.7715C>G	XP_005248337.1:p.Ser2572Cys
XM_005248282.5:c.7055C>G	XP_005248339.3:p.Ser2352Cys
XM_006714468.2:c.7517C>G	XP_006714531.1:p.Ser2506Cys
XM_017009329.1:c.7568C>G	XP_016864818.1:p.Ser2523Cys
XM_017009330.2:c.6098C>G	XP_016864819.1:p.Ser2033Cys
XM_017009331.1:c.6089C>G	XP_016864820.1:p.Ser2030Cys
NM_133433.4:c.7715C>G MANE Select	NP_597677.2:p.Ser2572Cys
NM_015384.5:c.7715C>G	NP_056199.2:p.Ser2572Cys