Canonical Allele Identifier: CA359513855

Gene: NIPBL

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.3248C>A MANE Select	ENSP00000282516.8:p.Pro1083Gln
ENST00000652901.1:c.3248C>A	ENSP00000499536.1:p.Pro1083Gln
ENST00000282516.12:c.3248C>A	ENSP00000282516.8:p.Pro1083Gln
ENST00000448238.2:c.3248C>A	ENSP00000406266.2:p.Pro1083Gln
ENST00000503274.1:n.599C>A
ENST00000504430.5:n.2868C>A
ENST00000621733.1:c.1-68830C>A	ENSP00000480694.1:n.1-68830C>A
NM_015384.4:c.3248C>A	NP_056199.2:p.Pro1083Gln
NM_133433.3:c.3248C>A	NP_597677.2:p.Pro1083Gln
XM_005248280.2:c.3248C>A	XP_005248337.1:p.Pro1083Gln
XM_005248282.3:c.2504C>A	XP_005248339.2:p.Pro835Gln
XM_006714467.2:c.3248C>A	XP_006714530.1:p.Pro1083Gln
XM_006714468.1:c.3248C>A	XP_006714531.1:p.Pro1083Gln
XM_011514014.1:c.3122-5069C>A	XP_011512316.1:n.3122-5069C>A
XM_011514015.1:c.3248C>A	XP_011512317.1:p.Pro1083Gln
XM_005248280.3:c.3248C>A	XP_005248337.1:p.Pro1083Gln
XM_005248282.5:c.2588C>A	XP_005248339.3:p.Pro863Gln
XM_006714468.2:c.3248C>A	XP_006714531.1:p.Pro1083Gln
XM_017009329.1:c.3248C>A	XP_016864818.1:p.Pro1083Gln
XM_017009330.2:c.1631C>A	XP_016864819.1:p.Pro544Gln
XM_017009331.1:c.1622C>A	XP_016864820.1:p.Pro541Gln
NM_133433.4:c.3248C>A MANE Select	NP_597677.2:p.Pro1083Gln
NM_015384.5:c.3248C>A	NP_056199.2:p.Pro1083Gln