Canonical Allele Identifier: CA359492604
Gene: NIPBL HGNC NCBI

Linked Data

ClinVar Variation Id: 427030
ClinVar RCV Id: RCV000490227
dbSNP Id: rs1085307910
MyVariant Identifiers: chr5:g.36984803A>C (hg19) chr5:g.36984701A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.36984701A>C , CM000667.2:g.36984701A>C GRCh38
NC_000005.9:g.36984803A>C , CM000667.1:g.36984803A>C GRCh37
NC_000005.8:g.37020560A>C NCBI36
NG_006987.1:g.112819A>C
NG_006987.2:g.112819A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000282516.13:c.1521A>C MANE Select ENSP00000282516.8:p.Gln507His
ENST00000652901.1:c.1521A>C ENSP00000499536.1:p.Gln507His
ENST00000282516.12:c.1521A>C ENSP00000282516.8:p.Gln507His
ENST00000448238.2:c.1521A>C ENSP00000406266.2:p.Gln507His
ENST00000504430.5:n.1141A>C
ENST00000621733.1:c.1-79877A>C ENSP00000480694.1:n.1-79877A>C
NM_015384.4:c.1521A>C NP_056199.2:p.Gln507His
NM_133433.3:c.1521A>C NP_597677.2:p.Gln507His
XM_005248280.2:c.1521A>C XP_005248337.1:p.Gln507His
XM_005248282.3:c.777A>C XP_005248339.2:p.Gln259His
XM_006714467.2:c.1521A>C XP_006714530.1:p.Gln507His
XM_006714468.1:c.1521A>C XP_006714531.1:p.Gln507His
XM_011514014.1:c.1521A>C XP_011512316.1:p.Gln507His
XM_011514015.1:c.1521A>C XP_011512317.1:p.Gln507His
XM_005248280.3:c.1521A>C XP_005248337.1:p.Gln507His
XM_005248282.5:c.861A>C XP_005248339.3:p.Gln287His
XM_006714468.2:c.1521A>C XP_006714531.1:p.Gln507His
XM_017009329.1:c.1521A>C XP_016864818.1:p.Gln507His
XM_017009330.2:c.-97A>C XP_016864819.1:n.-97A>C
XM_017009331.1:c.1495+8299A>C XP_016864820.1:n.1495+8299A>C
NM_133433.4:c.1521A>C MANE Select NP_597677.2:p.Gln507His
NM_015384.5:c.1521A>C NP_056199.2:p.Gln507His
Search 100 bp 5'
Search 100 bp 3'