Canonical Allele Identifier: CA2578289399

Gene: NIPBL

Linked Data

• gnomAD v4: 5-37020444-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37020444C>A , CM000667.2:g.37020444C>A	GRCh38
NC_000005.9:g.37020546C>A , CM000667.1:g.37020546C>A	GRCh37
NC_000005.8:g.37056303C>A	NCBI36
NG_006987.1:g.148562C>A
NG_006987.2:g.148562C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.5011-15C>A MANE Select	ENSP00000282516.8:n.5011-15C>A
ENST00000652901.1:c.5011-15C>A	ENSP00000499536.1:n.5011-15C>A
ENST00000282516.12:c.5011-15C>A	ENSP00000282516.8:n.5011-15C>A
ENST00000448238.2:c.5011-15C>A	ENSP00000406266.2:n.5011-15C>A
ENST00000621733.1:c.1-44134C>A	ENSP00000480694.1:n.1-44134C>A
NM_015384.4:c.5011-15C>A	NP_056199.2:n.5011-15C>A
NM_133433.3:c.5011-15C>A	NP_597677.2:n.5011-15C>A
XM_005248280.2:c.5011-15C>A	XP_005248337.1:n.5011-15C>A
XM_005248282.3:c.4267-15C>A	XP_005248339.2:n.4267-15C>A
XM_006714467.2:c.5011-15C>A	XP_006714530.1:n.5011-15C>A
XM_006714468.1:c.4813-15C>A	XP_006714531.1:n.4813-15C>A
XM_011514014.1:c.4630-15C>A	XP_011512316.1:n.4630-15C>A
XM_011514015.1:c.5011-15C>A	XP_011512317.1:n.5011-15C>A
XM_005248280.3:c.5011-15C>A	XP_005248337.1:n.5011-15C>A
XM_005248282.5:c.4351-15C>A	XP_005248339.3:n.4351-15C>A
XM_006714468.2:c.4813-15C>A	XP_006714531.1:n.4813-15C>A
XM_017009329.1:c.5011-15C>A	XP_016864818.1:n.5011-15C>A
XM_017009330.2:c.3394-15C>A	XP_016864819.1:n.3394-15C>A
XM_017009331.1:c.3385-15C>A	XP_016864820.1:n.3385-15C>A
NM_133433.4:c.5011-15C>A MANE Select	NP_597677.2:n.5011-15C>A
NM_015384.5:c.5011-15C>A	NP_056199.2:n.5011-15C>A