Canonical Allele Identifier: CA359520208

Gene: NIPBL

Linked Data

• dbSNP Id: rs1339004014
• gnomAD v2: 5-37063951-A-G
• gnomAD v4: 5-37063849-A-G
• MyVariant Identifiers: chr5:g.37063951A>G (hg19) ; chr5:g.37063849A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37063849A>G , CM000667.2:g.37063849A>G	GRCh38
NC_000005.9:g.37063951A>G , CM000667.1:g.37063951A>G	GRCh37
NC_000005.8:g.37099708A>G	NCBI36
NG_006987.1:g.191967A>G
NG_006987.2:g.191967A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.7920A>G MANE Select	ENSP00000282516.8:p.Ser2640=
ENST00000652901.1:c.7773A>G	ENSP00000499536.1:p.Ser2591=
ENST00000282516.12:c.7920A>G	ENSP00000282516.8:p.Ser2640=
ENST00000448238.2:c.7920A>G	ENSP00000406266.2:p.Ser2640=
ENST00000513819.1:c.323A>G	ENSP00000421504.1:p.Gln108Arg
ENST00000514335.1:n.1802A>G
ENST00000621733.1:c.1-729A>G	ENSP00000480694.1:n.1-729A>G
NM_015384.4:c.7920A>G	NP_056199.2:p.Ser2640=
NM_133433.3:c.7920A>G	NP_597677.2:p.Ser2640=
XM_005248280.2:c.7920A>G	XP_005248337.1:p.Ser2640=
XM_005248282.3:c.7176A>G	XP_005248339.2:p.Ser2392=
XM_006714467.2:c.7773A>G	XP_006714530.1:p.Ser2591=
XM_006714468.1:c.7722A>G	XP_006714531.1:p.Ser2574=
XM_011514014.1:c.7539A>G	XP_011512316.1:p.Ser2513=
XM_005248280.3:c.7920A>G	XP_005248337.1:p.Ser2640=
XM_005248282.5:c.7260A>G	XP_005248339.3:p.Ser2420=
XM_006714468.2:c.7722A>G	XP_006714531.1:p.Ser2574=
XM_017009329.1:c.7773A>G	XP_016864818.1:p.Ser2591=
XM_017009330.2:c.6303A>G	XP_016864819.1:p.Ser2101=
XM_017009331.1:c.6294A>G	XP_016864820.1:p.Ser2098=
NM_133433.4:c.7920A>G MANE Select	NP_597677.2:p.Ser2640=
NM_015384.5:c.7920A>G	NP_056199.2:p.Ser2640=