Canonical Allele Identifier: CA117058992

Gene: NIPBL CPLANE1

Linked Data

• dbSNP Id: rs186140730
• gnomAD v3: 5-37064734-C-T
• gnomAD v4: 5-37064734-C-T
• MyVariant Identifiers: chr5:g.37064836C>T (hg19) ; chr5:g.37064734C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37064734C>T , CM000667.2:g.37064734C>T	GRCh38
NC_000005.9:g.37064836C>T , CM000667.1:g.37064836C>T	GRCh37
NC_000005.8:g.37100593C>T	NCBI36
NG_006987.1:g.192852C>T
NG_006987.2:g.192852C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.8257C>T (NIPBL) MANE Select	ENSP00000282516.8:p.Arg2753Cys
ENST00000652901.1:c.*201C>T (NIPBL)	ENSP00000499536.1:n.*201C>T
ENST00000282516.12:c.8257C>T (NIPBL)	ENSP00000282516.8:p.Arg2753Cys
ENST00000514335.1:n.2180C>T (NIPBL)
ENST00000621733.1:c.157C>T (NIPBL)	ENSP00000480694.1:p.Arg53Cys
NM_015384.4:c.*711C>T (NIPBL)	NP_056199.2:n.*711C>T
NM_133433.3:c.8257C>T (NIPBL)	NP_597677.2:p.Arg2753Cys
XM_005248280.2:c.*201C>T (NIPBL)	XP_005248337.1:n.*201C>T
XM_005248282.3:c.7513C>T (NIPBL)	XP_005248339.2:p.Arg2505Cys
XM_006714467.2:c.8110C>T (NIPBL)	XP_006714530.1:p.Arg2704Cys
XM_006714468.1:c.8059C>T (NIPBL)	XP_006714531.1:p.Arg2687Cys
XM_011514014.1:c.7876C>T (NIPBL)	XP_011512316.1:p.Arg2626Cys
XM_005248280.3:c.*201C>T (NIPBL)	XP_005248337.1:n.*201C>T
XM_005248282.5:c.7597C>T (NIPBL)	XP_005248339.3:p.Arg2533Cys
XM_006714468.2:c.8059C>T (NIPBL)	XP_006714531.1:p.Arg2687Cys
XM_017009329.1:c.*201C>T (NIPBL)	XP_016864818.1:n.*201C>T
XM_017009330.2:c.6640C>T (NIPBL)	XP_016864819.1:p.Arg2214Cys
XM_017009331.1:c.6631C>T (NIPBL)	XP_016864820.1:p.Arg2211Cys
XR_925644.2:n.11948G>A (CPLANE1)
NM_133433.4:c.8257C>T (NIPBL) MANE Select	NP_597677.2:p.Arg2753Cys
NM_015384.5:c.*711C>T (NIPBL)	NP_056199.2:n.*711C>T