Canonical Allele Identifier: CA1539615789

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37016149T= , CM000667.2:g.37016149T=	GRCh38
NC_000005.9:g.37016251T= , CM000667.1:g.37016251T=	GRCh37
NC_000005.8:g.37052008T=	NCBI36
NG_006987.1:g.144267T=
NG_006987.2:g.144267T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.4755T= MANE Select	ENSP00000282516.8:p.Leu1585=
ENST00000652901.1:c.4755T=	ENSP00000499536.1:p.Leu1585=
ENST00000282516.12:c.4755T=	ENSP00000282516.8:p.Leu1585=
ENST00000448238.2:c.4755T=	ENSP00000406266.2:p.Leu1585=
ENST00000621733.1:c.1-48429T=	ENSP00000480694.1:n.1-48429T=
NM_015384.4:c.4755T=	NP_056199.2:p.Leu1585=
NM_133433.3:c.4755T=	NP_597677.2:p.Leu1585=
XM_005248280.2:c.4755T=	XP_005248337.1:p.Leu1585=
XM_005248282.3:c.4011T=	XP_005248339.2:p.Leu1337=
XM_006714467.2:c.4755T=	XP_006714530.1:p.Leu1585=
XM_006714468.1:c.4557T=	XP_006714531.1:p.Leu1519=
XM_011514014.1:c.4374T=	XP_011512316.1:p.Leu1458=
XM_011514015.1:c.4755T=	XP_011512317.1:p.Leu1585=
XM_005248280.3:c.4755T=	XP_005248337.1:p.Leu1585=
XM_005248282.5:c.4095T=	XP_005248339.3:p.Leu1365=
XM_006714468.2:c.4557T=	XP_006714531.1:p.Leu1519=
XM_017009329.1:c.4755T=	XP_016864818.1:p.Leu1585=
XM_017009330.2:c.3138T=	XP_016864819.1:p.Leu1046=
XM_017009331.1:c.3129T=	XP_016864820.1:p.Leu1043=
NM_133433.4:c.4755T= MANE Select	NP_597677.2:p.Leu1585=
NM_015384.5:c.4755T=	NP_056199.2:p.Leu1585=