Canonical Allele Identifier: CA2595469161

Gene: NIPBL

Linked Data

• dbSNP Id: rs1445235814
• gnomAD v3: 5-36876942-C-A
• gnomAD v4: 5-36876942-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36876942C>A , CM000667.2:g.36876942C>A	GRCh38
NC_000005.9:g.36877044C>A , CM000667.1:g.36877044C>A	GRCh37
NC_000005.8:g.36912801C>A	NCBI36
NG_006987.1:g.5060C>A
NG_006987.2:g.5060C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.-316C>A MANE Select	ENSP00000282516.8:n.-316C>A
ENST00000652901.1:c.-316C>A	ENSP00000499536.1:n.-316C>A
ENST00000282516.12:c.-316C>A	ENSP00000282516.8:n.-316C>A
ENST00000448238.2:c.-316C>A	ENSP00000406266.2:n.-316C>A
NM_015384.4:c.-316C>A	NP_056199.2:n.-316C>A
NM_133433.3:c.-316C>A	NP_597677.2:n.-316C>A
XM_005248280.2:c.-316C>A	XP_005248337.1:n.-316C>A
XM_006714467.2:c.-316C>A	XP_006714530.1:n.-316C>A
XM_006714468.1:c.-316C>A	XP_006714531.1:n.-316C>A
XM_011514014.1:c.-316C>A	XP_011512316.1:n.-316C>A
XM_011514015.1:c.-316C>A	XP_011512317.1:n.-316C>A
XM_005248280.3:c.-316C>A	XP_005248337.1:n.-316C>A
XM_006714468.2:c.-316C>A	XP_006714531.1:n.-316C>A
XM_017009329.1:c.-316C>A	XP_016864818.1:n.-316C>A
XM_017009331.1:c.-316C>A	XP_016864820.1:n.-316C>A
NM_133433.4:c.-316C>A MANE Select	NP_597677.2:n.-316C>A
NM_015384.5:c.-316C>A	NP_056199.2:n.-316C>A