Canonical Allele Identifier: CA359519119

Gene: NIPBL

Linked Data

• MyVariant Identifiers: chr5:g.37061086A>T (hg19) ; chr5:g.37060984A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37060984A>T , CM000667.2:g.37060984A>T	GRCh38
NC_000005.9:g.37061086A>T , CM000667.1:g.37061086A>T	GRCh37
NC_000005.8:g.37096843A>T	NCBI36
NG_006987.1:g.189102A>T
NG_006987.2:g.189102A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.7826A>T MANE Select	ENSP00000282516.8:p.Glu2609Val
ENST00000652901.1:c.7679A>T	ENSP00000499536.1:p.Glu2560Val
ENST00000282516.12:c.7826A>T	ENSP00000282516.8:p.Glu2609Val
ENST00000448238.2:c.7826A>T	ENSP00000406266.2:p.Glu2609Val
ENST00000513819.1:c.263+1819A>T	ENSP00000421504.1:n.263+1819A>T
ENST00000514335.1:n.1708A>T
ENST00000621733.1:c.1-3594A>T	ENSP00000480694.1:n.1-3594A>T
NM_015384.4:c.7826A>T	NP_056199.2:p.Glu2609Val
NM_133433.3:c.7826A>T	NP_597677.2:p.Glu2609Val
XM_005248280.2:c.7826A>T	XP_005248337.1:p.Glu2609Val
XM_005248282.3:c.7082A>T	XP_005248339.2:p.Glu2361Val
XM_006714467.2:c.7679A>T	XP_006714530.1:p.Glu2560Val
XM_006714468.1:c.7628A>T	XP_006714531.1:p.Glu2543Val
XM_011514014.1:c.7445A>T	XP_011512316.1:p.Glu2482Val
XM_005248280.3:c.7826A>T	XP_005248337.1:p.Glu2609Val
XM_005248282.5:c.7166A>T	XP_005248339.3:p.Glu2389Val
XM_006714468.2:c.7628A>T	XP_006714531.1:p.Glu2543Val
XM_017009329.1:c.7679A>T	XP_016864818.1:p.Glu2560Val
XM_017009330.2:c.6209A>T	XP_016864819.1:p.Glu2070Val
XM_017009331.1:c.6200A>T	XP_016864820.1:p.Glu2067Val
NM_133433.4:c.7826A>T MANE Select	NP_597677.2:p.Glu2609Val
NM_015384.5:c.7826A>T	NP_056199.2:p.Glu2609Val