Canonical Allele Identifier: CA117056594

Gene: NIPBL

Linked Data

• dbSNP Id: rs369240129
• gnomAD v2: 5-37001131-A-T
• gnomAD v4: 5-37001029-A-T
• MyVariant Identifiers: chr5:g.37001131A>T (hg19) ; chr5:g.37001029A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37001029A>T , CM000667.2:g.37001029A>T	GRCh38
NC_000005.9:g.37001131A>T , CM000667.1:g.37001131A>T	GRCh37
NC_000005.8:g.37036888A>T	NCBI36
NG_006987.1:g.129147A>T
NG_006987.2:g.129147A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.3615A>T MANE Select	ENSP00000282516.8:p.Ser1205=
ENST00000652901.1:c.3615A>T	ENSP00000499536.1:p.Ser1205=
ENST00000282516.12:c.3615A>T	ENSP00000282516.8:p.Ser1205=
ENST00000448238.2:c.3615A>T	ENSP00000406266.2:p.Ser1205=
ENST00000621733.1:c.1-63549A>T	ENSP00000480694.1:n.1-63549A>T
NM_015384.4:c.3615A>T	NP_056199.2:p.Ser1205=
NM_133433.3:c.3615A>T	NP_597677.2:p.Ser1205=
XM_005248280.2:c.3615A>T	XP_005248337.1:p.Ser1205=
XM_005248282.3:c.2871A>T	XP_005248339.2:p.Ser957=
XM_006714467.2:c.3615A>T	XP_006714530.1:p.Ser1205=
XM_006714468.1:c.3417A>T	XP_006714531.1:p.Ser1139=
XM_011514014.1:c.3234A>T	XP_011512316.1:p.Ser1078=
XM_011514015.1:c.3615A>T	XP_011512317.1:p.Ser1205=
XM_005248280.3:c.3615A>T	XP_005248337.1:p.Ser1205=
XM_005248282.5:c.2955A>T	XP_005248339.3:p.Ser985=
XM_006714468.2:c.3417A>T	XP_006714531.1:p.Ser1139=
XM_017009329.1:c.3615A>T	XP_016864818.1:p.Ser1205=
XM_017009330.2:c.1998A>T	XP_016864819.1:p.Ser666=
XM_017009331.1:c.1989A>T	XP_016864820.1:p.Ser663=
NM_133433.4:c.3615A>T MANE Select	NP_597677.2:p.Ser1205=
NM_015384.5:c.3615A>T	NP_056199.2:p.Ser1205=