Canonical Allele Identifier: CA272208

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37044480G>T , CM000667.2:g.37044480G>T	GRCh38
NC_000005.9:g.37044582G>T , CM000667.1:g.37044582G>T	GRCh37
NC_000005.8:g.37080339G>T	NCBI36
NG_006987.1:g.172598G>T
NG_006987.2:g.172598G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_133433.4:c.6242G>T MANE Select	NP_597677.2:p.Gly2081Val
ENST00000282516.13:c.6242G>T MANE Select	ENSP00000282516.8:p.Gly2081Val
NM_015384.4:c.6242G>T	NP_056199.2:p.Gly2081Val
NM_015384.5:c.6242G>T	NP_056199.2:p.Gly2081Val
NM_133433.3:c.6242G>T	NP_597677.2:p.Gly2081Val
ENST00000282516.12:c.6242G>T	ENSP00000282516.8:p.Gly2081Val
ENST00000448238.2:c.6242G>T	ENSP00000406266.2:p.Gly2081Val
ENST00000621733.1:c.1-20098G>T	ENSP00000480694.1:n.1-20098G>T
ENST00000652901.1:c.6242G>T	ENSP00000499536.1:p.Gly2081Val
XM_005248280.2:c.6242G>T	XP_005248337.1:p.Gly2081Val
XM_005248280.3:c.6242G>T	XP_005248337.1:p.Gly2081Val
XM_005248282.3:c.5498G>T	XP_005248339.2:p.Gly1833Val
XM_005248282.5:c.5582G>T	XP_005248339.3:p.Gly1861Val
XM_006714467.2:c.6242G>T	XP_006714530.1:p.Gly2081Val
XM_006714468.1:c.6044G>T	XP_006714531.1:p.Gly2015Val
XM_006714468.2:c.6044G>T	XP_006714531.1:p.Gly2015Val
XM_011514014.1:c.5861G>T	XP_011512316.1:p.Gly1954Val
XM_011514015.1:c.6242G>T	XP_011512317.1:p.Gly2081Val
XM_017009329.1:c.6242G>T	XP_016864818.1:p.Gly2081Val
XM_017009330.2:c.4625G>T	XP_016864819.1:p.Gly1542Val
XM_017009331.1:c.4616G>T	XP_016864820.1:p.Gly1539Val