Canonical Allele Identifier: CA359518450

Gene: NIPBL

Linked Data

• MyVariant Identifiers: chr5:g.37060989G>A (hg19) ; chr5:g.37060887G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37060887G>A , CM000667.2:g.37060887G>A	GRCh38
NC_000005.9:g.37060989G>A , CM000667.1:g.37060989G>A	GRCh37
NC_000005.8:g.37096746G>A	NCBI36
NG_006987.1:g.189005G>A
NG_006987.2:g.189005G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.7729G>A MANE Select	ENSP00000282516.8:p.Asp2577Asn
ENST00000652901.1:c.7582G>A	ENSP00000499536.1:p.Asp2528Asn
ENST00000282516.12:c.7729G>A	ENSP00000282516.8:p.Asp2577Asn
ENST00000448238.2:c.7729G>A	ENSP00000406266.2:p.Asp2577Asn
ENST00000513819.1:c.263+1722G>A	ENSP00000421504.1:n.263+1722G>A
ENST00000514335.1:n.1611G>A
ENST00000621733.1:c.1-3691G>A	ENSP00000480694.1:n.1-3691G>A
NM_015384.4:c.7729G>A	NP_056199.2:p.Asp2577Asn
NM_133433.3:c.7729G>A	NP_597677.2:p.Asp2577Asn
XM_005248280.2:c.7729G>A	XP_005248337.1:p.Asp2577Asn
XM_005248282.3:c.6985G>A	XP_005248339.2:p.Asp2329Asn
XM_006714467.2:c.7582G>A	XP_006714530.1:p.Asp2528Asn
XM_006714468.1:c.7531G>A	XP_006714531.1:p.Asp2511Asn
XM_011514014.1:c.7348G>A	XP_011512316.1:p.Asp2450Asn
XM_011514015.1:c.*41G>A	XP_011512317.1:n.*41G>A
XM_005248280.3:c.7729G>A	XP_005248337.1:p.Asp2577Asn
XM_005248282.5:c.7069G>A	XP_005248339.3:p.Asp2357Asn
XM_006714468.2:c.7531G>A	XP_006714531.1:p.Asp2511Asn
XM_017009329.1:c.7582G>A	XP_016864818.1:p.Asp2528Asn
XM_017009330.2:c.6112G>A	XP_016864819.1:p.Asp2038Asn
XM_017009331.1:c.6103G>A	XP_016864820.1:p.Asp2035Asn
NM_133433.4:c.7729G>A MANE Select	NP_597677.2:p.Asp2577Asn
NM_015384.5:c.7729G>A	NP_056199.2:p.Asp2577Asn