Canonical Allele Identifier: CA117025924

Gene: NIPBL

Linked Data

• ClinVar Variation Id: 1327639
• ClinVar RCV Id: RCV001794581 ; RCV004040843
• dbSNP Id: rs943147398
• gnomAD v2: 5-37016210-A-G
• MyVariant Identifiers: chr5:g.37016210A>G (hg19) ; chr5:g.37016108A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37016108A>G , CM000667.2:g.37016108A>G	GRCh38
NC_000005.9:g.37016210A>G , CM000667.1:g.37016210A>G	GRCh37
NC_000005.8:g.37051967A>G	NCBI36
NG_006987.1:g.144226A>G
NG_006987.2:g.144226A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.4714A>G MANE Select	ENSP00000282516.8:p.Thr1572Ala
ENST00000652901.1:c.4714A>G	ENSP00000499536.1:p.Thr1572Ala
ENST00000282516.12:c.4714A>G	ENSP00000282516.8:p.Thr1572Ala
ENST00000448238.2:c.4714A>G	ENSP00000406266.2:p.Thr1572Ala
ENST00000621733.1:c.1-48470A>G	ENSP00000480694.1:n.1-48470A>G
NM_015384.4:c.4714A>G	NP_056199.2:p.Thr1572Ala
NM_133433.3:c.4714A>G	NP_597677.2:p.Thr1572Ala
XM_005248280.2:c.4714A>G	XP_005248337.1:p.Thr1572Ala
XM_005248282.3:c.3970A>G	XP_005248339.2:p.Thr1324Ala
XM_006714467.2:c.4714A>G	XP_006714530.1:p.Thr1572Ala
XM_006714468.1:c.4516A>G	XP_006714531.1:p.Thr1506Ala
XM_011514014.1:c.4333A>G	XP_011512316.1:p.Thr1445Ala
XM_011514015.1:c.4714A>G	XP_011512317.1:p.Thr1572Ala
XM_005248280.3:c.4714A>G	XP_005248337.1:p.Thr1572Ala
XM_005248282.5:c.4054A>G	XP_005248339.3:p.Thr1352Ala
XM_006714468.2:c.4516A>G	XP_006714531.1:p.Thr1506Ala
XM_017009329.1:c.4714A>G	XP_016864818.1:p.Thr1572Ala
XM_017009330.2:c.3097A>G	XP_016864819.1:p.Thr1033Ala
XM_017009331.1:c.3088A>G	XP_016864820.1:p.Thr1030Ala
NM_133433.4:c.4714A>G MANE Select	NP_597677.2:p.Thr1572Ala
NM_015384.5:c.4714A>G	NP_056199.2:p.Thr1572Ala