Canonical Allele Identifier: CA443916350

Gene: NIPBL

Linked Data

• MyVariant Identifiers: chr5:g.37061090G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37060988G>T , CM000667.2:g.37060988G>T	GRCh38
NC_000005.9:g.37061090G>T , CM000667.1:g.37061090G>T	GRCh37
NC_000005.8:g.37096847G>T	NCBI36
NG_006987.1:g.189106G>T
NG_006987.2:g.189106G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.7830G>T MANE Select	ENSP00000282516.8:p.Val2610=
ENST00000652901.1:c.7683G>T	ENSP00000499536.1:p.Val2561=
ENST00000282516.12:c.7830G>T	ENSP00000282516.8:p.Val2610=
ENST00000448238.2:c.7830G>T	ENSP00000406266.2:p.Val2610=
ENST00000513819.1:c.263+1823G>T	ENSP00000421504.1:n.263+1823G>T
ENST00000514335.1:n.1712G>T
ENST00000621733.1:c.1-3590G>T	ENSP00000480694.1:n.1-3590G>T
NM_015384.4:c.7830G>T	NP_056199.2:p.Val2610=
NM_133433.3:c.7830G>T	NP_597677.2:p.Val2610=
XM_005248280.2:c.7830G>T	XP_005248337.1:p.Val2610=
XM_005248282.3:c.7086G>T	XP_005248339.2:p.Val2362=
XM_006714467.2:c.7683G>T	XP_006714530.1:p.Val2561=
XM_006714468.1:c.7632G>T	XP_006714531.1:p.Val2544=
XM_011514014.1:c.7449G>T	XP_011512316.1:p.Val2483=
XM_005248280.3:c.7830G>T	XP_005248337.1:p.Val2610=
XM_005248282.5:c.7170G>T	XP_005248339.3:p.Val2390=
XM_006714468.2:c.7632G>T	XP_006714531.1:p.Val2544=
XM_017009329.1:c.7683G>T	XP_016864818.1:p.Val2561=
XM_017009330.2:c.6213G>T	XP_016864819.1:p.Val2071=
XM_017009331.1:c.6204G>T	XP_016864820.1:p.Val2068=
NM_133433.4:c.7830G>T MANE Select	NP_597677.2:p.Val2610=
NM_015384.5:c.7830G>T	NP_056199.2:p.Val2610=