Canonical Allele Identifier: CA359518384

Gene: NIPBL

Linked Data

• dbSNP Id: rs2149755428
• gnomAD v4: 5-37060875-G-A
• MyVariant Identifiers: chr5:g.37060977G>A (hg19) ; chr5:g.37060875G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37060875G>A , CM000667.2:g.37060875G>A	GRCh38
NC_000005.9:g.37060977G>A , CM000667.1:g.37060977G>A	GRCh37
NC_000005.8:g.37096734G>A	NCBI36
NG_006987.1:g.188993G>A
NG_006987.2:g.188993G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.7717G>A MANE Select	ENSP00000282516.8:p.Ala2573Thr
ENST00000652901.1:c.7570G>A	ENSP00000499536.1:p.Ala2524Thr
ENST00000282516.12:c.7717G>A	ENSP00000282516.8:p.Ala2573Thr
ENST00000448238.2:c.7717G>A	ENSP00000406266.2:p.Ala2573Thr
ENST00000513819.1:c.263+1710G>A	ENSP00000421504.1:n.263+1710G>A
ENST00000514335.1:n.1599G>A
ENST00000621733.1:c.1-3703G>A	ENSP00000480694.1:n.1-3703G>A
NM_015384.4:c.7717G>A	NP_056199.2:p.Ala2573Thr
NM_133433.3:c.7717G>A	NP_597677.2:p.Ala2573Thr
XM_005248280.2:c.7717G>A	XP_005248337.1:p.Ala2573Thr
XM_005248282.3:c.6973G>A	XP_005248339.2:p.Ala2325Thr
XM_006714467.2:c.7570G>A	XP_006714530.1:p.Ala2524Thr
XM_006714468.1:c.7519G>A	XP_006714531.1:p.Ala2507Thr
XM_011514014.1:c.7336G>A	XP_011512316.1:p.Ala2446Thr
XM_011514015.1:c.*29G>A	XP_011512317.1:n.*29G>A
XM_005248280.3:c.7717G>A	XP_005248337.1:p.Ala2573Thr
XM_005248282.5:c.7057G>A	XP_005248339.3:p.Ala2353Thr
XM_006714468.2:c.7519G>A	XP_006714531.1:p.Ala2507Thr
XM_017009329.1:c.7570G>A	XP_016864818.1:p.Ala2524Thr
XM_017009330.2:c.6100G>A	XP_016864819.1:p.Ala2034Thr
XM_017009331.1:c.6091G>A	XP_016864820.1:p.Ala2031Thr
NM_133433.4:c.7717G>A MANE Select	NP_597677.2:p.Ala2573Thr
NM_015384.5:c.7717G>A	NP_056199.2:p.Ala2573Thr