Canonical Allele Identifier: CA3236225
Gene: NIPBL HGNC NCBI

Linked Data

dbSNP Id: rs780661057
gnomAD v2: 5-36986064-G-A
gnomAD v4: 5-36985962-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.36985962G>A , CM000667.2:g.36985962G>A GRCh38
NC_000005.9:g.36986064G>A , CM000667.1:g.36986064G>A GRCh37
NC_000005.8:g.37021821G>A NCBI36
NG_006987.1:g.114080G>A
NG_006987.2:g.114080G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000282516.13:c.2782G>A MANE Select ENSP00000282516.8:p.Val928Ile
ENST00000652901.1:c.2782G>A ENSP00000499536.1:p.Val928Ile
ENST00000282516.12:c.2782G>A ENSP00000282516.8:p.Val928Ile
ENST00000448238.2:c.2782G>A ENSP00000406266.2:p.Val928Ile
ENST00000504430.5:n.2402G>A
ENST00000621733.1:c.1-78616G>A ENSP00000480694.1:n.1-78616G>A
NM_015384.4:c.2782G>A NP_056199.2:p.Val928Ile
NM_133433.3:c.2782G>A NP_597677.2:p.Val928Ile
XM_005248280.2:c.2782G>A XP_005248337.1:p.Val928Ile
XM_005248282.3:c.2038G>A XP_005248339.2:p.Val680Ile
XM_006714467.2:c.2782G>A XP_006714530.1:p.Val928Ile
XM_006714468.1:c.2782G>A XP_006714531.1:p.Val928Ile
XM_011514014.1:c.2782G>A XP_011512316.1:p.Val928Ile
XM_011514015.1:c.2782G>A XP_011512317.1:p.Val928Ile
XM_005248280.3:c.2782G>A XP_005248337.1:p.Val928Ile
XM_005248282.5:c.2122G>A XP_005248339.3:p.Val708Ile
XM_006714468.2:c.2782G>A XP_006714531.1:p.Val928Ile
XM_017009329.1:c.2782G>A XP_016864818.1:p.Val928Ile
XM_017009330.2:c.1165G>A XP_016864819.1:p.Val389Ile
XM_017009331.1:c.1495+9560G>A XP_016864820.1:n.1495+9560G>A
NM_133433.4:c.2782G>A MANE Select NP_597677.2:p.Val928Ile
NM_015384.5:c.2782G>A NP_056199.2:p.Val928Ile