Canonical Allele Identifier: CA3235988
Gene: NIPBL HGNC NCBI

Linked Data

ClinVar Variation Id: 2886398
ClinVar RCV Id: RCV003602888
dbSNP Id: rs747144008
gnomAD v2: 5-36976178-T-C
gnomAD v4: 5-36976076-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.36976076T>C , CM000667.2:g.36976076T>C GRCh38
NC_000005.9:g.36976178T>C , CM000667.1:g.36976178T>C GRCh37
NC_000005.8:g.37011935T>C NCBI36
NG_006987.1:g.104194T>C
NG_006987.2:g.104194T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000282516.13:c.1169T>C MANE Select ENSP00000282516.8:p.Ile390Thr
ENST00000652901.1:c.1169T>C ENSP00000499536.1:p.Ile390Thr
ENST00000282516.12:c.1169T>C ENSP00000282516.8:p.Ile390Thr
ENST00000448238.2:c.1169T>C ENSP00000406266.2:p.Ile390Thr
ENST00000504430.5:n.789T>C
ENST00000621733.1:c.1-88502T>C ENSP00000480694.1:n.1-88502T>C
NM_015384.4:c.1169T>C NP_056199.2:p.Ile390Thr
NM_133433.3:c.1169T>C NP_597677.2:p.Ile390Thr
XM_005248280.2:c.1169T>C XP_005248337.1:p.Ile390Thr
XM_005248282.3:c.425T>C XP_005248339.2:p.Ile142Thr
XM_006714467.2:c.1169T>C XP_006714530.1:p.Ile390Thr
XM_006714468.1:c.1169T>C XP_006714531.1:p.Ile390Thr
XM_011514014.1:c.1169T>C XP_011512316.1:p.Ile390Thr
XM_011514015.1:c.1169T>C XP_011512317.1:p.Ile390Thr
XM_005248280.3:c.1169T>C XP_005248337.1:p.Ile390Thr
XM_005248282.5:c.509T>C XP_005248339.3:p.Ile170Thr
XM_006714468.2:c.1169T>C XP_006714531.1:p.Ile390Thr
XM_017009329.1:c.1169T>C XP_016864818.1:p.Ile390Thr
XM_017009331.1:c.1169T>C XP_016864820.1:p.Ile390Thr
NM_133433.4:c.1169T>C MANE Select NP_597677.2:p.Ile390Thr
NM_015384.5:c.1169T>C NP_056199.2:p.Ile390Thr