Canonical Allele Identifier: CA359519536

Gene: NIPBL

Linked Data

• MyVariant Identifiers: chr5:g.37001168T>A (hg19) ; chr5:g.37001066T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37001066T>A , CM000667.2:g.37001066T>A	GRCh38
NC_000005.9:g.37001168T>A , CM000667.1:g.37001168T>A	GRCh37
NC_000005.8:g.37036925T>A	NCBI36
NG_006987.1:g.129184T>A
NG_006987.2:g.129184T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.3652T>A MANE Select	ENSP00000282516.8:p.Phe1218Ile
ENST00000652901.1:c.3652T>A	ENSP00000499536.1:p.Phe1218Ile
ENST00000282516.12:c.3652T>A	ENSP00000282516.8:p.Phe1218Ile
ENST00000448238.2:c.3652T>A	ENSP00000406266.2:p.Phe1218Ile
ENST00000621733.1:c.1-63512T>A	ENSP00000480694.1:n.1-63512T>A
NM_015384.4:c.3652T>A	NP_056199.2:p.Phe1218Ile
NM_133433.3:c.3652T>A	NP_597677.2:p.Phe1218Ile
XM_005248280.2:c.3652T>A	XP_005248337.1:p.Phe1218Ile
XM_005248282.3:c.2908T>A	XP_005248339.2:p.Phe970Ile
XM_006714467.2:c.3652T>A	XP_006714530.1:p.Phe1218Ile
XM_006714468.1:c.3454T>A	XP_006714531.1:p.Phe1152Ile
XM_011514014.1:c.3271T>A	XP_011512316.1:p.Phe1091Ile
XM_011514015.1:c.3652T>A	XP_011512317.1:p.Phe1218Ile
XM_005248280.3:c.3652T>A	XP_005248337.1:p.Phe1218Ile
XM_005248282.5:c.2992T>A	XP_005248339.3:p.Phe998Ile
XM_006714468.2:c.3454T>A	XP_006714531.1:p.Phe1152Ile
XM_017009329.1:c.3652T>A	XP_016864818.1:p.Phe1218Ile
XM_017009330.2:c.2035T>A	XP_016864819.1:p.Phe679Ile
XM_017009331.1:c.2026T>A	XP_016864820.1:p.Phe676Ile
NM_133433.4:c.3652T>A MANE Select	NP_597677.2:p.Phe1218Ile
NM_015384.5:c.3652T>A	NP_056199.2:p.Phe1218Ile