Canonical Allele Identifier: CA359518627

Gene: NIPBL

Linked Data

• gnomAD v4: 5-37060924-A-G
• MyVariant Identifiers: chr5:g.37061026A>G (hg19) ; chr5:g.37060924A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37060924A>G , CM000667.2:g.37060924A>G	GRCh38
NC_000005.9:g.37061026A>G , CM000667.1:g.37061026A>G	GRCh37
NC_000005.8:g.37096783A>G	NCBI36
NG_006987.1:g.189042A>G
NG_006987.2:g.189042A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.7766A>G MANE Select	ENSP00000282516.8:p.His2589Arg
ENST00000652901.1:c.7619A>G	ENSP00000499536.1:p.His2540Arg
ENST00000282516.12:c.7766A>G	ENSP00000282516.8:p.His2589Arg
ENST00000448238.2:c.7766A>G	ENSP00000406266.2:p.His2589Arg
ENST00000513819.1:c.263+1759A>G	ENSP00000421504.1:n.263+1759A>G
ENST00000514335.1:n.1648A>G
ENST00000621733.1:c.1-3654A>G	ENSP00000480694.1:n.1-3654A>G
NM_015384.4:c.7766A>G	NP_056199.2:p.His2589Arg
NM_133433.3:c.7766A>G	NP_597677.2:p.His2589Arg
XM_005248280.2:c.7766A>G	XP_005248337.1:p.His2589Arg
XM_005248282.3:c.7022A>G	XP_005248339.2:p.His2341Arg
XM_006714467.2:c.7619A>G	XP_006714530.1:p.His2540Arg
XM_006714468.1:c.7568A>G	XP_006714531.1:p.His2523Arg
XM_011514014.1:c.7385A>G	XP_011512316.1:p.His2462Arg
XM_011514015.1:c.*78A>G	XP_011512317.1:n.*78A>G
XM_005248280.3:c.7766A>G	XP_005248337.1:p.His2589Arg
XM_005248282.5:c.7106A>G	XP_005248339.3:p.His2369Arg
XM_006714468.2:c.7568A>G	XP_006714531.1:p.His2523Arg
XM_017009329.1:c.7619A>G	XP_016864818.1:p.His2540Arg
XM_017009330.2:c.6149A>G	XP_016864819.1:p.His2050Arg
XM_017009331.1:c.6140A>G	XP_016864820.1:p.His2047Arg
NM_133433.4:c.7766A>G MANE Select	NP_597677.2:p.His2589Arg
NM_015384.5:c.7766A>G	NP_056199.2:p.His2589Arg