Canonical Allele Identifier: CA3236194
Gene: NIPBL HGNC NCBI

Linked Data

dbSNP Id: rs147522427
gnomAD v2: 5-36985858-A-T
gnomAD v3: 5-36985756-A-T
gnomAD v4: 5-36985756-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.36985756A>T , CM000667.2:g.36985756A>T GRCh38
NC_000005.9:g.36985858A>T , CM000667.1:g.36985858A>T GRCh37
NC_000005.8:g.37021615A>T NCBI36
NG_006987.1:g.113874A>T
NG_006987.2:g.113874A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000282516.13:c.2576A>T MANE Select ENSP00000282516.8:p.Asp859Val
ENST00000652901.1:c.2576A>T ENSP00000499536.1:p.Asp859Val
ENST00000282516.12:c.2576A>T ENSP00000282516.8:p.Asp859Val
ENST00000448238.2:c.2576A>T ENSP00000406266.2:p.Asp859Val
ENST00000504430.5:n.2196A>T
ENST00000621733.1:c.1-78822A>T ENSP00000480694.1:n.1-78822A>T
NM_015384.4:c.2576A>T NP_056199.2:p.Asp859Val
NM_133433.3:c.2576A>T NP_597677.2:p.Asp859Val
XM_005248280.2:c.2576A>T XP_005248337.1:p.Asp859Val
XM_005248282.3:c.1832A>T XP_005248339.2:p.Asp611Val
XM_006714467.2:c.2576A>T XP_006714530.1:p.Asp859Val
XM_006714468.1:c.2576A>T XP_006714531.1:p.Asp859Val
XM_011514014.1:c.2576A>T XP_011512316.1:p.Asp859Val
XM_011514015.1:c.2576A>T XP_011512317.1:p.Asp859Val
XM_005248280.3:c.2576A>T XP_005248337.1:p.Asp859Val
XM_005248282.5:c.1916A>T XP_005248339.3:p.Asp639Val
XM_006714468.2:c.2576A>T XP_006714531.1:p.Asp859Val
XM_017009329.1:c.2576A>T XP_016864818.1:p.Asp859Val
XM_017009330.2:c.959A>T XP_016864819.1:p.Asp320Val
XM_017009331.1:c.1495+9354A>T XP_016864820.1:n.1495+9354A>T
NM_133433.4:c.2576A>T MANE Select NP_597677.2:p.Asp859Val
NM_015384.5:c.2576A>T NP_056199.2:p.Asp859Val