Canonical Allele Identifier: CA359518395

Gene: NIPBL

Linked Data

• MyVariant Identifiers: chr5:g.37060978C>T (hg19) ; chr5:g.37060876C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37060876C>T , CM000667.2:g.37060876C>T	GRCh38
NC_000005.9:g.37060978C>T , CM000667.1:g.37060978C>T	GRCh37
NC_000005.8:g.37096735C>T	NCBI36
NG_006987.1:g.188994C>T
NG_006987.2:g.188994C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.7718C>T MANE Select	ENSP00000282516.8:p.Ala2573Val
ENST00000652901.1:c.7571C>T	ENSP00000499536.1:p.Ala2524Val
ENST00000282516.12:c.7718C>T	ENSP00000282516.8:p.Ala2573Val
ENST00000448238.2:c.7718C>T	ENSP00000406266.2:p.Ala2573Val
ENST00000513819.1:c.263+1711C>T	ENSP00000421504.1:n.263+1711C>T
ENST00000514335.1:n.1600C>T
ENST00000621733.1:c.1-3702C>T	ENSP00000480694.1:n.1-3702C>T
NM_015384.4:c.7718C>T	NP_056199.2:p.Ala2573Val
NM_133433.3:c.7718C>T	NP_597677.2:p.Ala2573Val
XM_005248280.2:c.7718C>T	XP_005248337.1:p.Ala2573Val
XM_005248282.3:c.6974C>T	XP_005248339.2:p.Ala2325Val
XM_006714467.2:c.7571C>T	XP_006714530.1:p.Ala2524Val
XM_006714468.1:c.7520C>T	XP_006714531.1:p.Ala2507Val
XM_011514014.1:c.7337C>T	XP_011512316.1:p.Ala2446Val
XM_011514015.1:c.*30C>T	XP_011512317.1:n.*30C>T
XM_005248280.3:c.7718C>T	XP_005248337.1:p.Ala2573Val
XM_005248282.5:c.7058C>T	XP_005248339.3:p.Ala2353Val
XM_006714468.2:c.7520C>T	XP_006714531.1:p.Ala2507Val
XM_017009329.1:c.7571C>T	XP_016864818.1:p.Ala2524Val
XM_017009330.2:c.6101C>T	XP_016864819.1:p.Ala2034Val
XM_017009331.1:c.6092C>T	XP_016864820.1:p.Ala2031Val
NM_133433.4:c.7718C>T MANE Select	NP_597677.2:p.Ala2573Val
NM_015384.5:c.7718C>T	NP_056199.2:p.Ala2573Val