Canonical Allele Identifier: CA359518220

Gene: NIPBL

Linked Data

• MyVariant Identifiers: chr5:g.37060954A>G (hg19) ; chr5:g.37060852A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37060852A>G , CM000667.2:g.37060852A>G	GRCh38
NC_000005.9:g.37060954A>G , CM000667.1:g.37060954A>G	GRCh37
NC_000005.8:g.37096711A>G	NCBI36
NG_006987.1:g.188970A>G
NG_006987.2:g.188970A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.7694A>G MANE Select	ENSP00000282516.8:p.Gln2565Arg
ENST00000652901.1:c.7547A>G	ENSP00000499536.1:p.Gln2516Arg
ENST00000282516.12:c.7694A>G	ENSP00000282516.8:p.Gln2565Arg
ENST00000448238.2:c.7694A>G	ENSP00000406266.2:p.Gln2565Arg
ENST00000513819.1:c.263+1687A>G	ENSP00000421504.1:n.263+1687A>G
ENST00000514335.1:n.1576A>G
ENST00000621733.1:c.1-3726A>G	ENSP00000480694.1:n.1-3726A>G
NM_015384.4:c.7694A>G	NP_056199.2:p.Gln2565Arg
NM_133433.3:c.7694A>G	NP_597677.2:p.Gln2565Arg
XM_005248280.2:c.7694A>G	XP_005248337.1:p.Gln2565Arg
XM_005248282.3:c.6950A>G	XP_005248339.2:p.Gln2317Arg
XM_006714467.2:c.7547A>G	XP_006714530.1:p.Gln2516Arg
XM_006714468.1:c.7496A>G	XP_006714531.1:p.Gln2499Arg
XM_011514014.1:c.7313A>G	XP_011512316.1:p.Gln2438Arg
XM_011514015.1:c.*6A>G	XP_011512317.1:n.*6A>G
XM_005248280.3:c.7694A>G	XP_005248337.1:p.Gln2565Arg
XM_005248282.5:c.7034A>G	XP_005248339.3:p.Gln2345Arg
XM_006714468.2:c.7496A>G	XP_006714531.1:p.Gln2499Arg
XM_017009329.1:c.7547A>G	XP_016864818.1:p.Gln2516Arg
XM_017009330.2:c.6077A>G	XP_016864819.1:p.Gln2026Arg
XM_017009331.1:c.6068A>G	XP_016864820.1:p.Gln2023Arg
NM_133433.4:c.7694A>G MANE Select	NP_597677.2:p.Gln2565Arg
NM_015384.5:c.7694A>G	NP_056199.2:p.Gln2565Arg