Canonical Allele Identifier: CA1539592676

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36995667T= , CM000667.2:g.36995667T=	GRCh38
NC_000005.9:g.36995769T= , CM000667.1:g.36995769T=	GRCh37
NC_000005.8:g.37031526T=	NCBI36
NG_006987.1:g.123785T=
NG_006987.2:g.123785T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.3167T= MANE Select	ENSP00000282516.8:p.Leu1056=
ENST00000652901.1:c.3167T=	ENSP00000499536.1:p.Leu1056=
ENST00000282516.12:c.3167T=	ENSP00000282516.8:p.Leu1056=
ENST00000448238.2:c.3167T=	ENSP00000406266.2:p.Leu1056=
ENST00000503274.1:n.518T=
ENST00000504430.5:n.2787T=
ENST00000621733.1:c.1-68911T=	ENSP00000480694.1:n.1-68911T=
NM_015384.4:c.3167T=	NP_056199.2:p.Leu1056=
NM_133433.3:c.3167T=	NP_597677.2:p.Leu1056=
XM_005248280.2:c.3167T=	XP_005248337.1:p.Leu1056=
XM_005248282.3:c.2423T=	XP_005248339.2:p.Leu808=
XM_006714467.2:c.3167T=	XP_006714530.1:p.Leu1056=
XM_006714468.1:c.3167T=	XP_006714531.1:p.Leu1056=
XM_011514014.1:c.3122-5150T=	XP_011512316.1:n.3122-5150T=
XM_011514015.1:c.3167T=	XP_011512317.1:p.Leu1056=
XM_005248280.3:c.3167T=	XP_005248337.1:p.Leu1056=
XM_005248282.5:c.2507T=	XP_005248339.3:p.Leu836=
XM_006714468.2:c.3167T=	XP_006714531.1:p.Leu1056=
XM_017009329.1:c.3167T=	XP_016864818.1:p.Leu1056=
XM_017009330.2:c.1550T=	XP_016864819.1:p.Leu517=
XM_017009331.1:c.1541T=	XP_016864820.1:p.Leu514=
NM_133433.4:c.3167T= MANE Select	NP_597677.2:p.Leu1056=
NM_015384.5:c.3167T=	NP_056199.2:p.Leu1056=