Canonical Allele Identifier: CA359508991

Gene: NIPBL

Linked Data

• MyVariant Identifiers: chr5:g.37049345A>G (hg19) ; chr5:g.37049243A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37049243A>G , CM000667.2:g.37049243A>G	GRCh38
NC_000005.9:g.37049345A>G , CM000667.1:g.37049345A>G	GRCh37
NC_000005.8:g.37085102A>G	NCBI36
NG_006987.1:g.177361A>G
NG_006987.2:g.177361A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.6896A>G MANE Select	ENSP00000282516.8:p.His2299Arg
ENST00000652901.1:c.6896A>G	ENSP00000499536.1:p.His2299Arg
ENST00000282516.12:c.6896A>G	ENSP00000282516.8:p.His2299Arg
ENST00000448238.2:c.6896A>G	ENSP00000406266.2:p.His2299Arg
ENST00000621733.1:c.1-15335A>G	ENSP00000480694.1:n.1-15335A>G
NM_015384.4:c.6896A>G	NP_056199.2:p.His2299Arg
NM_133433.3:c.6896A>G	NP_597677.2:p.His2299Arg
XM_005248280.2:c.6896A>G	XP_005248337.1:p.His2299Arg
XM_005248282.3:c.6152A>G	XP_005248339.2:p.His2051Arg
XM_006714467.2:c.6896A>G	XP_006714530.1:p.His2299Arg
XM_006714468.1:c.6698A>G	XP_006714531.1:p.His2233Arg
XM_011514014.1:c.6515A>G	XP_011512316.1:p.His2172Arg
XM_011514015.1:c.6896A>G	XP_011512317.1:p.His2299Arg
XM_005248280.3:c.6896A>G	XP_005248337.1:p.His2299Arg
XM_005248282.5:c.6236A>G	XP_005248339.3:p.His2079Arg
XM_006714468.2:c.6698A>G	XP_006714531.1:p.His2233Arg
XM_017009329.1:c.6896A>G	XP_016864818.1:p.His2299Arg
XM_017009330.2:c.5279A>G	XP_016864819.1:p.His1760Arg
XM_017009331.1:c.5270A>G	XP_016864820.1:p.His1757Arg
NM_133433.4:c.6896A>G MANE Select	NP_597677.2:p.His2299Arg
NM_015384.5:c.6896A>G	NP_056199.2:p.His2299Arg