Canonical Allele Identifier: CA359510564

Gene: NIPBL

Linked Data

• MyVariant Identifiers: chr5:g.37051946G>T (hg19) ; chr5:g.37051844G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37051844G>T , CM000667.2:g.37051844G>T	GRCh38
NC_000005.9:g.37051946G>T , CM000667.1:g.37051946G>T	GRCh37
NC_000005.8:g.37087703G>T	NCBI36
NG_006987.1:g.179962G>T
NG_006987.2:g.179962G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.7020G>T MANE Select	ENSP00000282516.8:p.Gln2340His
ENST00000652901.1:c.7020G>T	ENSP00000499536.1:p.Gln2340His
ENST00000282516.12:c.7020G>T	ENSP00000282516.8:p.Gln2340His
ENST00000448238.2:c.7020G>T	ENSP00000406266.2:p.Gln2340His
ENST00000514335.1:n.902G>T
ENST00000621733.1:c.1-12734G>T	ENSP00000480694.1:n.1-12734G>T
NM_015384.4:c.7020G>T	NP_056199.2:p.Gln2340His
NM_133433.3:c.7020G>T	NP_597677.2:p.Gln2340His
XM_005248280.2:c.7020G>T	XP_005248337.1:p.Gln2340His
XM_005248282.3:c.6276G>T	XP_005248339.2:p.Gln2092His
XM_006714467.2:c.7020G>T	XP_006714530.1:p.Gln2340His
XM_006714468.1:c.6822G>T	XP_006714531.1:p.Gln2274His
XM_011514014.1:c.6639G>T	XP_011512316.1:p.Gln2213His
XM_011514015.1:c.7020G>T	XP_011512317.1:p.Gln2340His
XM_005248280.3:c.7020G>T	XP_005248337.1:p.Gln2340His
XM_005248282.5:c.6360G>T	XP_005248339.3:p.Gln2120His
XM_006714468.2:c.6822G>T	XP_006714531.1:p.Gln2274His
XM_017009329.1:c.7020G>T	XP_016864818.1:p.Gln2340His
XM_017009330.2:c.5403G>T	XP_016864819.1:p.Gln1801His
XM_017009331.1:c.5394G>T	XP_016864820.1:p.Gln1798His
NM_133433.4:c.7020G>T MANE Select	NP_597677.2:p.Gln2340His
NM_015384.5:c.7020G>T	NP_056199.2:p.Gln2340His