Canonical Allele Identifier: CA359482974

Gene: NIPBL

Linked Data

• MyVariant Identifiers: chr5:g.37016246C>T (hg19) ; chr5:g.37016144C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37016144C>T , CM000667.2:g.37016144C>T	GRCh38
NC_000005.9:g.37016246C>T , CM000667.1:g.37016246C>T	GRCh37
NC_000005.8:g.37052003C>T	NCBI36
NG_006987.1:g.144262C>T
NG_006987.2:g.144262C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.4750C>T MANE Select	ENSP00000282516.8:p.Leu1584Phe
ENST00000652901.1:c.4750C>T	ENSP00000499536.1:p.Leu1584Phe
ENST00000282516.12:c.4750C>T	ENSP00000282516.8:p.Leu1584Phe
ENST00000448238.2:c.4750C>T	ENSP00000406266.2:p.Leu1584Phe
ENST00000621733.1:c.1-48434C>T	ENSP00000480694.1:n.1-48434C>T
NM_015384.4:c.4750C>T	NP_056199.2:p.Leu1584Phe
NM_133433.3:c.4750C>T	NP_597677.2:p.Leu1584Phe
XM_005248280.2:c.4750C>T	XP_005248337.1:p.Leu1584Phe
XM_005248282.3:c.4006C>T	XP_005248339.2:p.Leu1336Phe
XM_006714467.2:c.4750C>T	XP_006714530.1:p.Leu1584Phe
XM_006714468.1:c.4552C>T	XP_006714531.1:p.Leu1518Phe
XM_011514014.1:c.4369C>T	XP_011512316.1:p.Leu1457Phe
XM_011514015.1:c.4750C>T	XP_011512317.1:p.Leu1584Phe
XM_005248280.3:c.4750C>T	XP_005248337.1:p.Leu1584Phe
XM_005248282.5:c.4090C>T	XP_005248339.3:p.Leu1364Phe
XM_006714468.2:c.4552C>T	XP_006714531.1:p.Leu1518Phe
XM_017009329.1:c.4750C>T	XP_016864818.1:p.Leu1584Phe
XM_017009330.2:c.3133C>T	XP_016864819.1:p.Leu1045Phe
XM_017009331.1:c.3124C>T	XP_016864820.1:p.Leu1042Phe
NM_133433.4:c.4750C>T MANE Select	NP_597677.2:p.Leu1584Phe
NM_015384.5:c.4750C>T	NP_056199.2:p.Leu1584Phe