Canonical Allele Identifier: CA359508997

Gene: NIPBL

Linked Data

• MyVariant Identifiers: chr5:g.37049347T>A (hg19) ; chr5:g.37049245T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37049245T>A , CM000667.2:g.37049245T>A	GRCh38
NC_000005.9:g.37049347T>A , CM000667.1:g.37049347T>A	GRCh37
NC_000005.8:g.37085104T>A	NCBI36
NG_006987.1:g.177363T>A
NG_006987.2:g.177363T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.6898T>A MANE Select	ENSP00000282516.8:p.Phe2300Ile
ENST00000652901.1:c.6898T>A	ENSP00000499536.1:p.Phe2300Ile
ENST00000282516.12:c.6898T>A	ENSP00000282516.8:p.Phe2300Ile
ENST00000448238.2:c.6898T>A	ENSP00000406266.2:p.Phe2300Ile
ENST00000621733.1:c.1-15333T>A	ENSP00000480694.1:n.1-15333T>A
NM_015384.4:c.6898T>A	NP_056199.2:p.Phe2300Ile
NM_133433.3:c.6898T>A	NP_597677.2:p.Phe2300Ile
XM_005248280.2:c.6898T>A	XP_005248337.1:p.Phe2300Ile
XM_005248282.3:c.6154T>A	XP_005248339.2:p.Phe2052Ile
XM_006714467.2:c.6898T>A	XP_006714530.1:p.Phe2300Ile
XM_006714468.1:c.6700T>A	XP_006714531.1:p.Phe2234Ile
XM_011514014.1:c.6517T>A	XP_011512316.1:p.Phe2173Ile
XM_011514015.1:c.6898T>A	XP_011512317.1:p.Phe2300Ile
XM_005248280.3:c.6898T>A	XP_005248337.1:p.Phe2300Ile
XM_005248282.5:c.6238T>A	XP_005248339.3:p.Phe2080Ile
XM_006714468.2:c.6700T>A	XP_006714531.1:p.Phe2234Ile
XM_017009329.1:c.6898T>A	XP_016864818.1:p.Phe2300Ile
XM_017009330.2:c.5281T>A	XP_016864819.1:p.Phe1761Ile
XM_017009331.1:c.5272T>A	XP_016864820.1:p.Phe1758Ile
NM_133433.4:c.6898T>A MANE Select	NP_597677.2:p.Phe2300Ile
NM_015384.5:c.6898T>A	NP_056199.2:p.Phe2300Ile