Canonical Allele Identifier: CA359519135

Gene: NIPBL

Linked Data

• MyVariant Identifiers: chr5:g.37061088G>A (hg19) ; chr5:g.37060986G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37060986G>A , CM000667.2:g.37060986G>A	GRCh38
NC_000005.9:g.37061088G>A , CM000667.1:g.37061088G>A	GRCh37
NC_000005.8:g.37096845G>A	NCBI36
NG_006987.1:g.189104G>A
NG_006987.2:g.189104G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.7828G>A MANE Select	ENSP00000282516.8:p.Val2610Met
ENST00000652901.1:c.7681G>A	ENSP00000499536.1:p.Val2561Met
ENST00000282516.12:c.7828G>A	ENSP00000282516.8:p.Val2610Met
ENST00000448238.2:c.7828G>A	ENSP00000406266.2:p.Val2610Met
ENST00000513819.1:c.263+1821G>A	ENSP00000421504.1:n.263+1821G>A
ENST00000514335.1:n.1710G>A
ENST00000621733.1:c.1-3592G>A	ENSP00000480694.1:n.1-3592G>A
NM_015384.4:c.7828G>A	NP_056199.2:p.Val2610Met
NM_133433.3:c.7828G>A	NP_597677.2:p.Val2610Met
XM_005248280.2:c.7828G>A	XP_005248337.1:p.Val2610Met
XM_005248282.3:c.7084G>A	XP_005248339.2:p.Val2362Met
XM_006714467.2:c.7681G>A	XP_006714530.1:p.Val2561Met
XM_006714468.1:c.7630G>A	XP_006714531.1:p.Val2544Met
XM_011514014.1:c.7447G>A	XP_011512316.1:p.Val2483Met
XM_005248280.3:c.7828G>A	XP_005248337.1:p.Val2610Met
XM_005248282.5:c.7168G>A	XP_005248339.3:p.Val2390Met
XM_006714468.2:c.7630G>A	XP_006714531.1:p.Val2544Met
XM_017009329.1:c.7681G>A	XP_016864818.1:p.Val2561Met
XM_017009330.2:c.6211G>A	XP_016864819.1:p.Val2071Met
XM_017009331.1:c.6202G>A	XP_016864820.1:p.Val2068Met
NM_133433.4:c.7828G>A MANE Select	NP_597677.2:p.Val2610Met
NM_015384.5:c.7828G>A	NP_056199.2:p.Val2610Met