Canonical Allele Identifier: CA359513859

Gene: NIPBL

Linked Data

• MyVariant Identifiers: chr5:g.36995850C>G (hg19) ; chr5:g.36995748C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36995748C>G , CM000667.2:g.36995748C>G	GRCh38
NC_000005.9:g.36995850C>G , CM000667.1:g.36995850C>G	GRCh37
NC_000005.8:g.37031607C>G	NCBI36
NG_006987.1:g.123866C>G
NG_006987.2:g.123866C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.3248C>G MANE Select	ENSP00000282516.8:p.Pro1083Arg
ENST00000652901.1:c.3248C>G	ENSP00000499536.1:p.Pro1083Arg
ENST00000282516.12:c.3248C>G	ENSP00000282516.8:p.Pro1083Arg
ENST00000448238.2:c.3248C>G	ENSP00000406266.2:p.Pro1083Arg
ENST00000503274.1:n.599C>G
ENST00000504430.5:n.2868C>G
ENST00000621733.1:c.1-68830C>G	ENSP00000480694.1:n.1-68830C>G
NM_015384.4:c.3248C>G	NP_056199.2:p.Pro1083Arg
NM_133433.3:c.3248C>G	NP_597677.2:p.Pro1083Arg
XM_005248280.2:c.3248C>G	XP_005248337.1:p.Pro1083Arg
XM_005248282.3:c.2504C>G	XP_005248339.2:p.Pro835Arg
XM_006714467.2:c.3248C>G	XP_006714530.1:p.Pro1083Arg
XM_006714468.1:c.3248C>G	XP_006714531.1:p.Pro1083Arg
XM_011514014.1:c.3122-5069C>G	XP_011512316.1:n.3122-5069C>G
XM_011514015.1:c.3248C>G	XP_011512317.1:p.Pro1083Arg
XM_005248280.3:c.3248C>G	XP_005248337.1:p.Pro1083Arg
XM_005248282.5:c.2588C>G	XP_005248339.3:p.Pro863Arg
XM_006714468.2:c.3248C>G	XP_006714531.1:p.Pro1083Arg
XM_017009329.1:c.3248C>G	XP_016864818.1:p.Pro1083Arg
XM_017009330.2:c.1631C>G	XP_016864819.1:p.Pro544Arg
XM_017009331.1:c.1622C>G	XP_016864820.1:p.Pro541Arg
NM_133433.4:c.3248C>G MANE Select	NP_597677.2:p.Pro1083Arg
NM_015384.5:c.3248C>G	NP_056199.2:p.Pro1083Arg