Canonical Allele Identifier: CA359500445

Gene: NIPBL

Linked Data

• gnomAD v4: 5-36985475-G-T
• MyVariant Identifiers: chr5:g.36985577G>T (hg19) ; chr5:g.36985475G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36985475G>T , CM000667.2:g.36985475G>T	GRCh38
NC_000005.9:g.36985577G>T , CM000667.1:g.36985577G>T	GRCh37
NC_000005.8:g.37021334G>T	NCBI36
NG_006987.1:g.113593G>T
NG_006987.2:g.113593G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.2295G>T MANE Select	ENSP00000282516.8:p.Arg765Ser
ENST00000652901.1:c.2295G>T	ENSP00000499536.1:p.Arg765Ser
ENST00000282516.12:c.2295G>T	ENSP00000282516.8:p.Arg765Ser
ENST00000448238.2:c.2295G>T	ENSP00000406266.2:p.Arg765Ser
ENST00000504430.5:n.1915G>T
ENST00000621733.1:c.1-79103G>T	ENSP00000480694.1:n.1-79103G>T
NM_015384.4:c.2295G>T	NP_056199.2:p.Arg765Ser
NM_133433.3:c.2295G>T	NP_597677.2:p.Arg765Ser
XM_005248280.2:c.2295G>T	XP_005248337.1:p.Arg765Ser
XM_005248282.3:c.1551G>T	XP_005248339.2:p.Arg517Ser
XM_006714467.2:c.2295G>T	XP_006714530.1:p.Arg765Ser
XM_006714468.1:c.2295G>T	XP_006714531.1:p.Arg765Ser
XM_011514014.1:c.2295G>T	XP_011512316.1:p.Arg765Ser
XM_011514015.1:c.2295G>T	XP_011512317.1:p.Arg765Ser
XM_005248280.3:c.2295G>T	XP_005248337.1:p.Arg765Ser
XM_005248282.5:c.1635G>T	XP_005248339.3:p.Arg545Ser
XM_006714468.2:c.2295G>T	XP_006714531.1:p.Arg765Ser
XM_017009329.1:c.2295G>T	XP_016864818.1:p.Arg765Ser
XM_017009330.2:c.678G>T	XP_016864819.1:p.Arg226Ser
XM_017009331.1:c.1495+9073G>T	XP_016864820.1:n.1495+9073G>T
NM_133433.4:c.2295G>T MANE Select	NP_597677.2:p.Arg765Ser
NM_015384.5:c.2295G>T	NP_056199.2:p.Arg765Ser