Canonical Allele Identifier: CA444096552

Gene: NIPBL CPLANE1

Linked Data

• dbSNP Id: rs1359589912
• gnomAD v2: 5-37064847-C-T
• gnomAD v4: 5-37064745-C-T
• MyVariant Identifiers: chr5:g.37064847C>T (hg19) ; chr5:g.37064745C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37064745C>T , CM000667.2:g.37064745C>T	GRCh38
NC_000005.9:g.37064847C>T , CM000667.1:g.37064847C>T	GRCh37
NC_000005.8:g.37100604C>T	NCBI36
NG_006987.1:g.192863C>T
NG_006987.2:g.192863C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.8268C>T (NIPBL) MANE Select	ENSP00000282516.8:p.Gly2756=
ENST00000652901.1:c.*212C>T (NIPBL)	ENSP00000499536.1:n.*212C>T
ENST00000282516.12:c.8268C>T (NIPBL)	ENSP00000282516.8:p.Gly2756=
ENST00000514335.1:n.2191C>T (NIPBL)
ENST00000621733.1:c.168C>T (NIPBL)	ENSP00000480694.1:p.Gly56=
NM_015384.4:c.*722C>T (NIPBL)	NP_056199.2:n.*722C>T
NM_133433.3:c.8268C>T (NIPBL)	NP_597677.2:p.Gly2756=
XM_005248280.2:c.*212C>T (NIPBL)	XP_005248337.1:n.*212C>T
XM_005248282.3:c.7524C>T (NIPBL)	XP_005248339.2:p.Gly2508=
XM_006714467.2:c.8121C>T (NIPBL)	XP_006714530.1:p.Gly2707=
XM_006714468.1:c.8070C>T (NIPBL)	XP_006714531.1:p.Gly2690=
XM_011514014.1:c.7887C>T (NIPBL)	XP_011512316.1:p.Gly2629=
XM_005248280.3:c.*212C>T (NIPBL)	XP_005248337.1:n.*212C>T
XM_005248282.5:c.7608C>T (NIPBL)	XP_005248339.3:p.Gly2536=
XM_006714468.2:c.8070C>T (NIPBL)	XP_006714531.1:p.Gly2690=
XM_017009329.1:c.*212C>T (NIPBL)	XP_016864818.1:n.*212C>T
XM_017009330.2:c.6651C>T (NIPBL)	XP_016864819.1:p.Gly2217=
XM_017009331.1:c.6642C>T (NIPBL)	XP_016864820.1:p.Gly2214=
XR_925644.2:n.11937G>A (CPLANE1)
NM_133433.4:c.8268C>T (NIPBL) MANE Select	NP_597677.2:p.Gly2756=
NM_015384.5:c.*722C>T (NIPBL)	NP_056199.2:n.*722C>T