Canonical Allele Identifier: CA3236362

Gene: NIPBL

Linked Data

• ClinVar Variation Id: 2869583
• ClinVar RCV Id: RCV003602659
• dbSNP Id: rs772932503
• ExAC: 5:37000949 A / G
• gnomAD v2: 5-37000949-A-G
• gnomAD v3: 5-37000847-A-G
• gnomAD v4: 5-37000847-A-G
• MyVariant Identifiers: chr5:g.37000949A>G (hg19) ; chr5:g.37000847A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37000847A>G , CM000667.2:g.37000847A>G	GRCh38
NC_000005.9:g.37000949A>G , CM000667.1:g.37000949A>G	GRCh37
NC_000005.8:g.37036706A>G	NCBI36
NG_006987.1:g.128965A>G
NG_006987.2:g.128965A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.3533A>G MANE Select	ENSP00000282516.8:p.Gln1178Arg
ENST00000652901.1:c.3533A>G	ENSP00000499536.1:p.Gln1178Arg
ENST00000282516.12:c.3533A>G	ENSP00000282516.8:p.Gln1178Arg
ENST00000448238.2:c.3533A>G	ENSP00000406266.2:p.Gln1178Arg
ENST00000621733.1:c.1-63731A>G	ENSP00000480694.1:n.1-63731A>G
NM_015384.4:c.3533A>G	NP_056199.2:p.Gln1178Arg
NM_133433.3:c.3533A>G	NP_597677.2:p.Gln1178Arg
XM_005248280.2:c.3533A>G	XP_005248337.1:p.Gln1178Arg
XM_005248282.3:c.2789A>G	XP_005248339.2:p.Gln930Arg
XM_006714467.2:c.3533A>G	XP_006714530.1:p.Gln1178Arg
XM_006714468.1:c.3335A>G	XP_006714531.1:p.Gln1112Arg
XM_011514014.1:c.3152A>G	XP_011512316.1:p.Gln1051Arg
XM_011514015.1:c.3533A>G	XP_011512317.1:p.Gln1178Arg
XM_005248280.3:c.3533A>G	XP_005248337.1:p.Gln1178Arg
XM_005248282.5:c.2873A>G	XP_005248339.3:p.Gln958Arg
XM_006714468.2:c.3335A>G	XP_006714531.1:p.Gln1112Arg
XM_017009329.1:c.3533A>G	XP_016864818.1:p.Gln1178Arg
XM_017009330.2:c.1916A>G	XP_016864819.1:p.Gln639Arg
XM_017009331.1:c.1907A>G	XP_016864820.1:p.Gln636Arg
NM_133433.4:c.3533A>G MANE Select	NP_597677.2:p.Gln1178Arg
NM_015384.5:c.3533A>G	NP_056199.2:p.Gln1178Arg