Canonical Allele Identifier: CA2673575647

Gene: NIPBL

Linked Data

• gnomAD v4: 5-37051929-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37051929C>G , CM000667.2:g.37051929C>G	GRCh38
NC_000005.9:g.37052031C>G , CM000667.1:g.37052031C>G	GRCh37
NC_000005.8:g.37087788C>G	NCBI36
NG_006987.1:g.180047C>G
NG_006987.2:g.180047C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.7062+43C>G MANE Select	ENSP00000282516.8:n.7062+43C>G
ENST00000652901.1:c.7062+43C>G	ENSP00000499536.1:n.7062+43C>G
ENST00000282516.12:c.7062+43C>G	ENSP00000282516.8:n.7062+43C>G
ENST00000448238.2:c.7062+43C>G	ENSP00000406266.2:n.7062+43C>G
ENST00000514335.1:n.944+43C>G
ENST00000621733.1:c.1-12649C>G	ENSP00000480694.1:n.1-12649C>G
NM_015384.4:c.7062+43C>G	NP_056199.2:n.7062+43C>G
NM_133433.3:c.7062+43C>G	NP_597677.2:n.7062+43C>G
XM_005248280.2:c.7062+43C>G	XP_005248337.1:n.7062+43C>G
XM_005248282.3:c.6318+43C>G	XP_005248339.2:n.6318+43C>G
XM_006714467.2:c.7062+43C>G	XP_006714530.1:n.7062+43C>G
XM_006714468.1:c.6864+43C>G	XP_006714531.1:n.6864+43C>G
XM_011514014.1:c.6681+43C>G	XP_011512316.1:n.6681+43C>G
XM_011514015.1:c.7062+43C>G	XP_011512317.1:n.7062+43C>G
XM_005248280.3:c.7062+43C>G	XP_005248337.1:n.7062+43C>G
XM_005248282.5:c.6402+43C>G	XP_005248339.3:n.6402+43C>G
XM_006714468.2:c.6864+43C>G	XP_006714531.1:n.6864+43C>G
XM_017009329.1:c.7062+43C>G	XP_016864818.1:n.7062+43C>G
XM_017009330.2:c.5445+43C>G	XP_016864819.1:n.5445+43C>G
XM_017009331.1:c.5436+43C>G	XP_016864820.1:n.5436+43C>G
NM_133433.4:c.7062+43C>G MANE Select	NP_597677.2:n.7062+43C>G
NM_015384.5:c.7062+43C>G	NP_056199.2:n.7062+43C>G