Canonical Allele Identifier: CA272072

Gene: NIPBL

Linked Data

• ClinVar Variation Id: 159089
• ClinVar RCV Id: RCV000146582
• dbSNP Id: rs587783927
• MyVariant Identifiers: chr5:g.36958334G>T (hg19) ; chr5:g.36958232G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36958232G>T , CM000667.2:g.36958232G>T	GRCh38
NC_000005.9:g.36958334G>T , CM000667.1:g.36958334G>T	GRCh37
NC_000005.8:g.36994091G>T	NCBI36
NG_006987.1:g.86350G>T
NG_006987.2:g.86350G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.358+1G>T MANE Select	ENSP00000282516.8:n.358+1G>T
ENST00000652901.1:c.358+1G>T	ENSP00000499536.1:n.358+1G>T
ENST00000282516.12:c.358+1G>T	ENSP00000282516.8:n.358+1G>T
ENST00000448238.2:c.358+1G>T	ENSP00000406266.2:n.358+1G>T
ENST00000505998.5:n.337+1G>T
ENST00000621733.1:c.-1+81210G>T	ENSP00000480694.1:n.-1+81210G>T
NM_015384.4:c.358+1G>T	NP_056199.2:n.358+1G>T
NM_133433.3:c.358+1G>T	NP_597677.2:n.358+1G>T
XM_005248280.2:c.358+1G>T	XP_005248337.1:n.358+1G>T
XM_006714467.2:c.358+1G>T	XP_006714530.1:n.358+1G>T
XM_006714468.1:c.358+1G>T	XP_006714531.1:n.358+1G>T
XM_011514014.1:c.358+1G>T	XP_011512316.1:n.358+1G>T
XM_011514015.1:c.358+1G>T	XP_011512317.1:n.358+1G>T
XM_005248280.3:c.358+1G>T	XP_005248337.1:n.358+1G>T
XM_006714468.2:c.358+1G>T	XP_006714531.1:n.358+1G>T
XM_017009329.1:c.358+1G>T	XP_016864818.1:n.358+1G>T
XM_017009331.1:c.358+1G>T	XP_016864820.1:n.358+1G>T
NM_133433.4:c.358+1G>T MANE Select	NP_597677.2:n.358+1G>T
NM_015384.5:c.358+1G>T	NP_056199.2:n.358+1G>T