Canonical Allele Identifier: CA3236710

Gene: NIPBL

Linked Data

• dbSNP Id: rs769510161
• ExAC: 5:37020741 A / G
• gnomAD v2: 5-37020741-A-G
• gnomAD v4: 5-37020639-A-G
• MyVariant Identifiers: chr5:g.37020741A>G (hg19) ; chr5:g.37020639A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37020639A>G , CM000667.2:g.37020639A>G	GRCh38
NC_000005.9:g.37020741A>G , CM000667.1:g.37020741A>G	GRCh37
NC_000005.8:g.37056498A>G	NCBI36
NG_006987.1:g.148757A>G
NG_006987.2:g.148757A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.5191A>G MANE Select	ENSP00000282516.8:p.Ile1731Val
ENST00000652901.1:c.5191A>G	ENSP00000499536.1:p.Ile1731Val
ENST00000282516.12:c.5191A>G	ENSP00000282516.8:p.Ile1731Val
ENST00000448238.2:c.5191A>G	ENSP00000406266.2:p.Ile1731Val
ENST00000621733.1:c.1-43939A>G	ENSP00000480694.1:n.1-43939A>G
NM_015384.4:c.5191A>G	NP_056199.2:p.Ile1731Val
NM_133433.3:c.5191A>G	NP_597677.2:p.Ile1731Val
XM_005248280.2:c.5191A>G	XP_005248337.1:p.Ile1731Val
XM_005248282.3:c.4447A>G	XP_005248339.2:p.Ile1483Val
XM_006714467.2:c.5191A>G	XP_006714530.1:p.Ile1731Val
XM_006714468.1:c.4993A>G	XP_006714531.1:p.Ile1665Val
XM_011514014.1:c.4810A>G	XP_011512316.1:p.Ile1604Val
XM_011514015.1:c.5191A>G	XP_011512317.1:p.Ile1731Val
XM_005248280.3:c.5191A>G	XP_005248337.1:p.Ile1731Val
XM_005248282.5:c.4531A>G	XP_005248339.3:p.Ile1511Val
XM_006714468.2:c.4993A>G	XP_006714531.1:p.Ile1665Val
XM_017009329.1:c.5191A>G	XP_016864818.1:p.Ile1731Val
XM_017009330.2:c.3574A>G	XP_016864819.1:p.Ile1192Val
XM_017009331.1:c.3565A>G	XP_016864820.1:p.Ile1189Val
NM_133433.4:c.5191A>G MANE Select	NP_597677.2:p.Ile1731Val
NM_015384.5:c.5191A>G	NP_056199.2:p.Ile1731Val