Canonical Allele Identifier: CA359508914

Gene: NIPBL

Linked Data

• dbSNP Id: rs1350756882
• gnomAD v2: 5-37049311-G-C
• gnomAD v4: 5-37049209-G-C
• MyVariant Identifiers: chr5:g.37049311G>C (hg19) ; chr5:g.37049209G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37049209G>C , CM000667.2:g.37049209G>C	GRCh38
NC_000005.9:g.37049311G>C , CM000667.1:g.37049311G>C	GRCh37
NC_000005.8:g.37085068G>C	NCBI36
NG_006987.1:g.177327G>C
NG_006987.2:g.177327G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.6862G>C MANE Select	ENSP00000282516.8:p.Glu2288Gln
ENST00000652901.1:c.6862G>C	ENSP00000499536.1:p.Glu2288Gln
ENST00000282516.12:c.6862G>C	ENSP00000282516.8:p.Glu2288Gln
ENST00000448238.2:c.6862G>C	ENSP00000406266.2:p.Glu2288Gln
ENST00000621733.1:c.1-15369G>C	ENSP00000480694.1:n.1-15369G>C
NM_015384.4:c.6862G>C	NP_056199.2:p.Glu2288Gln
NM_133433.3:c.6862G>C	NP_597677.2:p.Glu2288Gln
XM_005248280.2:c.6862G>C	XP_005248337.1:p.Glu2288Gln
XM_005248282.3:c.6118G>C	XP_005248339.2:p.Glu2040Gln
XM_006714467.2:c.6862G>C	XP_006714530.1:p.Glu2288Gln
XM_006714468.1:c.6664G>C	XP_006714531.1:p.Glu2222Gln
XM_011514014.1:c.6481G>C	XP_011512316.1:p.Glu2161Gln
XM_011514015.1:c.6862G>C	XP_011512317.1:p.Glu2288Gln
XM_005248280.3:c.6862G>C	XP_005248337.1:p.Glu2288Gln
XM_005248282.5:c.6202G>C	XP_005248339.3:p.Glu2068Gln
XM_006714468.2:c.6664G>C	XP_006714531.1:p.Glu2222Gln
XM_017009329.1:c.6862G>C	XP_016864818.1:p.Glu2288Gln
XM_017009330.2:c.5245G>C	XP_016864819.1:p.Glu1749Gln
XM_017009331.1:c.5236G>C	XP_016864820.1:p.Glu1746Gln
NM_133433.4:c.6862G>C MANE Select	NP_597677.2:p.Glu2288Gln
NM_015384.5:c.6862G>C	NP_056199.2:p.Glu2288Gln