Canonical Allele Identifier: CA272281

Gene: NIPBL

Linked Data

• ClinVar Variation Id: 159218
• ClinVar RCV Id: RCV000146712
• dbSNP Id: rs587784031
• MyVariant Identifiers: chr5:g.37051950C>T (hg19) ; chr5:g.37051848C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37051848C>T , CM000667.2:g.37051848C>T	GRCh38
NC_000005.9:g.37051950C>T , CM000667.1:g.37051950C>T	GRCh37
NC_000005.8:g.37087707C>T	NCBI36
NG_006987.1:g.179966C>T
NG_006987.2:g.179966C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.7024C>T MANE Select	ENSP00000282516.8:p.Leu2342Phe
ENST00000652901.1:c.7024C>T	ENSP00000499536.1:p.Leu2342Phe
ENST00000282516.12:c.7024C>T	ENSP00000282516.8:p.Leu2342Phe
ENST00000448238.2:c.7024C>T	ENSP00000406266.2:p.Leu2342Phe
ENST00000514335.1:n.906C>T
ENST00000621733.1:c.1-12730C>T	ENSP00000480694.1:n.1-12730C>T
NM_015384.4:c.7024C>T	NP_056199.2:p.Leu2342Phe
NM_133433.3:c.7024C>T	NP_597677.2:p.Leu2342Phe
XM_005248280.2:c.7024C>T	XP_005248337.1:p.Leu2342Phe
XM_005248282.3:c.6280C>T	XP_005248339.2:p.Leu2094Phe
XM_006714467.2:c.7024C>T	XP_006714530.1:p.Leu2342Phe
XM_006714468.1:c.6826C>T	XP_006714531.1:p.Leu2276Phe
XM_011514014.1:c.6643C>T	XP_011512316.1:p.Leu2215Phe
XM_011514015.1:c.7024C>T	XP_011512317.1:p.Leu2342Phe
XM_005248280.3:c.7024C>T	XP_005248337.1:p.Leu2342Phe
XM_005248282.5:c.6364C>T	XP_005248339.3:p.Leu2122Phe
XM_006714468.2:c.6826C>T	XP_006714531.1:p.Leu2276Phe
XM_017009329.1:c.7024C>T	XP_016864818.1:p.Leu2342Phe
XM_017009330.2:c.5407C>T	XP_016864819.1:p.Leu1803Phe
XM_017009331.1:c.5398C>T	XP_016864820.1:p.Leu1800Phe
NM_133433.4:c.7024C>T MANE Select	NP_597677.2:p.Leu2342Phe
NM_015384.5:c.7024C>T	NP_056199.2:p.Leu2342Phe