Canonical Allele Identifier: CA359520210

Gene: NIPBL

Linked Data

• MyVariant Identifiers: chr5:g.37063952G>A (hg19) ; chr5:g.37063850G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37063850G>A , CM000667.2:g.37063850G>A	GRCh38
NC_000005.9:g.37063952G>A , CM000667.1:g.37063952G>A	GRCh37
NC_000005.8:g.37099709G>A	NCBI36
NG_006987.1:g.191968G>A
NG_006987.2:g.191968G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.7921G>A MANE Select	ENSP00000282516.8:p.Ala2641Thr
ENST00000652901.1:c.7774G>A	ENSP00000499536.1:p.Ala2592Thr
ENST00000282516.12:c.7921G>A	ENSP00000282516.8:p.Ala2641Thr
ENST00000448238.2:c.7921G>A	ENSP00000406266.2:p.Ala2641Thr
ENST00000513819.1:c.324G>A	ENSP00000421504.1:p.Gln108=
ENST00000514335.1:n.1803G>A
ENST00000621733.1:c.1-728G>A	ENSP00000480694.1:n.1-728G>A
NM_015384.4:c.7921G>A	NP_056199.2:p.Ala2641Thr
NM_133433.3:c.7921G>A	NP_597677.2:p.Ala2641Thr
XM_005248280.2:c.7921G>A	XP_005248337.1:p.Ala2641Thr
XM_005248282.3:c.7177G>A	XP_005248339.2:p.Ala2393Thr
XM_006714467.2:c.7774G>A	XP_006714530.1:p.Ala2592Thr
XM_006714468.1:c.7723G>A	XP_006714531.1:p.Ala2575Thr
XM_011514014.1:c.7540G>A	XP_011512316.1:p.Ala2514Thr
XM_005248280.3:c.7921G>A	XP_005248337.1:p.Ala2641Thr
XM_005248282.5:c.7261G>A	XP_005248339.3:p.Ala2421Thr
XM_006714468.2:c.7723G>A	XP_006714531.1:p.Ala2575Thr
XM_017009329.1:c.7774G>A	XP_016864818.1:p.Ala2592Thr
XM_017009330.2:c.6304G>A	XP_016864819.1:p.Ala2102Thr
XM_017009331.1:c.6295G>A	XP_016864820.1:p.Ala2099Thr
NM_133433.4:c.7921G>A MANE Select	NP_597677.2:p.Ala2641Thr
NM_015384.5:c.7921G>A	NP_056199.2:p.Ala2641Thr