Canonical Allele Identifier: CA359513981

Gene: NIPBL

Linked Data

• MyVariant Identifiers: chr5:g.36995863A>T (hg19) ; chr5:g.36995761A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36995761A>T , CM000667.2:g.36995761A>T	GRCh38
NC_000005.9:g.36995863A>T , CM000667.1:g.36995863A>T	GRCh37
NC_000005.8:g.37031620A>T	NCBI36
NG_006987.1:g.123879A>T
NG_006987.2:g.123879A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.3261A>T MANE Select	ENSP00000282516.8:p.Glu1087Asp
ENST00000652901.1:c.3261A>T	ENSP00000499536.1:p.Glu1087Asp
ENST00000282516.12:c.3261A>T	ENSP00000282516.8:p.Glu1087Asp
ENST00000448238.2:c.3261A>T	ENSP00000406266.2:p.Glu1087Asp
ENST00000503274.1:n.612A>T
ENST00000504430.5:n.2881A>T
ENST00000509429.1:n.12A>T
ENST00000621733.1:c.1-68817A>T	ENSP00000480694.1:n.1-68817A>T
NM_015384.4:c.3261A>T	NP_056199.2:p.Glu1087Asp
NM_133433.3:c.3261A>T	NP_597677.2:p.Glu1087Asp
XM_005248280.2:c.3261A>T	XP_005248337.1:p.Glu1087Asp
XM_005248282.3:c.2517A>T	XP_005248339.2:p.Glu839Asp
XM_006714467.2:c.3261A>T	XP_006714530.1:p.Glu1087Asp
XM_006714468.1:c.3261A>T	XP_006714531.1:p.Glu1087Asp
XM_011514014.1:c.3122-5056A>T	XP_011512316.1:n.3122-5056A>T
XM_011514015.1:c.3261A>T	XP_011512317.1:p.Glu1087Asp
XM_005248280.3:c.3261A>T	XP_005248337.1:p.Glu1087Asp
XM_005248282.5:c.2601A>T	XP_005248339.3:p.Glu867Asp
XM_006714468.2:c.3261A>T	XP_006714531.1:p.Glu1087Asp
XM_017009329.1:c.3261A>T	XP_016864818.1:p.Glu1087Asp
XM_017009330.2:c.1644A>T	XP_016864819.1:p.Glu548Asp
XM_017009331.1:c.1635A>T	XP_016864820.1:p.Glu545Asp
NM_133433.4:c.3261A>T MANE Select	NP_597677.2:p.Glu1087Asp
NM_015384.5:c.3261A>T	NP_056199.2:p.Glu1087Asp