Canonical Allele Identifier: CA117044526
Gene: NIPBL HGNC NCBI

Linked Data

ClinVar Variation Id: 805088
ClinVar RCV Id: RCV000992442
dbSNP Id: rs142574933
gnomAD v2: 5-36985705-G-A
gnomAD v3: 5-36985603-G-A
gnomAD v4: 5-36985603-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.36985603G>A , CM000667.2:g.36985603G>A GRCh38
NC_000005.9:g.36985705G>A , CM000667.1:g.36985705G>A GRCh37
NC_000005.8:g.37021462G>A NCBI36
NG_006987.1:g.113721G>A
NG_006987.2:g.113721G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000282516.13:c.2423G>A MANE Select ENSP00000282516.8:p.Arg808Gln
ENST00000652901.1:c.2423G>A ENSP00000499536.1:p.Arg808Gln
ENST00000282516.12:c.2423G>A ENSP00000282516.8:p.Arg808Gln
ENST00000448238.2:c.2423G>A ENSP00000406266.2:p.Arg808Gln
ENST00000504430.5:n.2043G>A
ENST00000621733.1:c.1-78975G>A ENSP00000480694.1:n.1-78975G>A
NM_015384.4:c.2423G>A NP_056199.2:p.Arg808Gln
NM_133433.3:c.2423G>A NP_597677.2:p.Arg808Gln
XM_005248280.2:c.2423G>A XP_005248337.1:p.Arg808Gln
XM_005248282.3:c.1679G>A XP_005248339.2:p.Arg560Gln
XM_006714467.2:c.2423G>A XP_006714530.1:p.Arg808Gln
XM_006714468.1:c.2423G>A XP_006714531.1:p.Arg808Gln
XM_011514014.1:c.2423G>A XP_011512316.1:p.Arg808Gln
XM_011514015.1:c.2423G>A XP_011512317.1:p.Arg808Gln
XM_005248280.3:c.2423G>A XP_005248337.1:p.Arg808Gln
XM_005248282.5:c.1763G>A XP_005248339.3:p.Arg588Gln
XM_006714468.2:c.2423G>A XP_006714531.1:p.Arg808Gln
XM_017009329.1:c.2423G>A XP_016864818.1:p.Arg808Gln
XM_017009330.2:c.806G>A XP_016864819.1:p.Arg269Gln
XM_017009331.1:c.1495+9201G>A XP_016864820.1:n.1495+9201G>A
NM_133433.4:c.2423G>A MANE Select NP_597677.2:p.Arg808Gln
NM_015384.5:c.2423G>A NP_056199.2:p.Arg808Gln