Canonical Allele Identifier: CA359506587

Gene: NIPBL

Linked Data

• dbSNP Id: rs1429336114
• gnomAD v2: 5-36986157-C-A
• MyVariant Identifiers: chr5:g.36986157C>A (hg19) ; chr5:g.36986055C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36986055C>A , CM000667.2:g.36986055C>A	GRCh38
NC_000005.9:g.36986157C>A , CM000667.1:g.36986157C>A	GRCh37
NC_000005.8:g.37021914C>A	NCBI36
NG_006987.1:g.114173C>A
NG_006987.2:g.114173C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.2875C>A MANE Select	ENSP00000282516.8:p.Pro959Thr
ENST00000652901.1:c.2875C>A	ENSP00000499536.1:p.Pro959Thr
ENST00000282516.12:c.2875C>A	ENSP00000282516.8:p.Pro959Thr
ENST00000448238.2:c.2875C>A	ENSP00000406266.2:p.Pro959Thr
ENST00000504430.5:n.2495C>A
ENST00000621733.1:c.1-78523C>A	ENSP00000480694.1:n.1-78523C>A
NM_015384.4:c.2875C>A	NP_056199.2:p.Pro959Thr
NM_133433.3:c.2875C>A	NP_597677.2:p.Pro959Thr
XM_005248280.2:c.2875C>A	XP_005248337.1:p.Pro959Thr
XM_005248282.3:c.2131C>A	XP_005248339.2:p.Pro711Thr
XM_006714467.2:c.2875C>A	XP_006714530.1:p.Pro959Thr
XM_006714468.1:c.2875C>A	XP_006714531.1:p.Pro959Thr
XM_011514014.1:c.2875C>A	XP_011512316.1:p.Pro959Thr
XM_011514015.1:c.2875C>A	XP_011512317.1:p.Pro959Thr
XM_005248280.3:c.2875C>A	XP_005248337.1:p.Pro959Thr
XM_005248282.5:c.2215C>A	XP_005248339.3:p.Pro739Thr
XM_006714468.2:c.2875C>A	XP_006714531.1:p.Pro959Thr
XM_017009329.1:c.2875C>A	XP_016864818.1:p.Pro959Thr
XM_017009330.2:c.1258C>A	XP_016864819.1:p.Pro420Thr
XM_017009331.1:c.1496-9567C>A	XP_016864820.1:n.1496-9567C>A
NM_133433.4:c.2875C>A MANE Select	NP_597677.2:p.Pro959Thr
NM_015384.5:c.2875C>A	NP_056199.2:p.Pro959Thr