Canonical Allele Identifier: CA359498579

Gene: NIPBL

Linked Data

• dbSNP Id: rs587783990
• MyVariant Identifiers: chr5:g.37038799C>T (hg19) ; chr5:g.37038697C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37038697C>T , CM000667.2:g.37038697C>T	GRCh38
NC_000005.9:g.37038799C>T , CM000667.1:g.37038799C>T	GRCh37
NC_000005.8:g.37074556C>T	NCBI36
NG_006987.1:g.166815C>T
NG_006987.2:g.166815C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.6067C>T MANE Select	ENSP00000282516.8:p.His2023Tyr
ENST00000652901.1:c.6067C>T	ENSP00000499536.1:p.His2023Tyr
ENST00000282516.12:c.6067C>T	ENSP00000282516.8:p.His2023Tyr
ENST00000448238.2:c.6067C>T	ENSP00000406266.2:p.His2023Tyr
ENST00000621733.1:c.1-25881C>T	ENSP00000480694.1:n.1-25881C>T
NM_015384.4:c.6067C>T	NP_056199.2:p.His2023Tyr
NM_133433.3:c.6067C>T	NP_597677.2:p.His2023Tyr
XM_005248280.2:c.6067C>T	XP_005248337.1:p.His2023Tyr
XM_005248282.3:c.5323C>T	XP_005248339.2:p.His1775Tyr
XM_006714467.2:c.6067C>T	XP_006714530.1:p.His2023Tyr
XM_006714468.1:c.5869C>T	XP_006714531.1:p.His1957Tyr
XM_011514014.1:c.5686C>T	XP_011512316.1:p.His1896Tyr
XM_011514015.1:c.6067C>T	XP_011512317.1:p.His2023Tyr
XM_005248280.3:c.6067C>T	XP_005248337.1:p.His2023Tyr
XM_005248282.5:c.5407C>T	XP_005248339.3:p.His1803Tyr
XM_006714468.2:c.5869C>T	XP_006714531.1:p.His1957Tyr
XM_017009329.1:c.6067C>T	XP_016864818.1:p.His2023Tyr
XM_017009330.2:c.4450C>T	XP_016864819.1:p.His1484Tyr
XM_017009331.1:c.4441C>T	XP_016864820.1:p.His1481Tyr
NM_133433.4:c.6067C>T MANE Select	NP_597677.2:p.His2023Tyr
NM_015384.5:c.6067C>T	NP_056199.2:p.His2023Tyr