Canonical Allele Identifier: CA359522565

Gene: NIPBL CPLANE1

Linked Data

• dbSNP Id: rs1755213640
• gnomAD v4: 5-37064690-A-G
• MyVariant Identifiers: chr5:g.37064792A>G (hg19) ; chr5:g.37064690A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37064690A>G , CM000667.2:g.37064690A>G	GRCh38
NC_000005.9:g.37064792A>G , CM000667.1:g.37064792A>G	GRCh37
NC_000005.8:g.37100549A>G	NCBI36
NG_006987.1:g.192808A>G
NG_006987.2:g.192808A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.8213A>G (NIPBL) MANE Select	ENSP00000282516.8:p.Gln2738Arg
ENST00000652901.1:c.*157A>G (NIPBL)	ENSP00000499536.1:n.*157A>G
ENST00000282516.12:c.8213A>G (NIPBL)	ENSP00000282516.8:p.Gln2738Arg
ENST00000514335.1:n.2136A>G (NIPBL)
ENST00000621733.1:c.113A>G (NIPBL)	ENSP00000480694.1:p.Gln38Arg
NM_015384.4:c.*667A>G (NIPBL)	NP_056199.2:n.*667A>G
NM_133433.3:c.8213A>G (NIPBL)	NP_597677.2:p.Gln2738Arg
XM_005248280.2:c.*157A>G (NIPBL)	XP_005248337.1:n.*157A>G
XM_005248282.3:c.7469A>G (NIPBL)	XP_005248339.2:p.Gln2490Arg
XM_006714467.2:c.8066A>G (NIPBL)	XP_006714530.1:p.Gln2689Arg
XM_006714468.1:c.8015A>G (NIPBL)	XP_006714531.1:p.Gln2672Arg
XM_011514014.1:c.7832A>G (NIPBL)	XP_011512316.1:p.Gln2611Arg
XM_005248280.3:c.*157A>G (NIPBL)	XP_005248337.1:n.*157A>G
XM_005248282.5:c.7553A>G (NIPBL)	XP_005248339.3:p.Gln2518Arg
XM_006714468.2:c.8015A>G (NIPBL)	XP_006714531.1:p.Gln2672Arg
XM_017009329.1:c.*157A>G (NIPBL)	XP_016864818.1:n.*157A>G
XM_017009330.2:c.6596A>G (NIPBL)	XP_016864819.1:p.Gln2199Arg
XM_017009331.1:c.6587A>G (NIPBL)	XP_016864820.1:p.Gln2196Arg
XR_925644.2:n.11992T>C (CPLANE1)
NM_133433.4:c.8213A>G (NIPBL) MANE Select	NP_597677.2:p.Gln2738Arg
NM_015384.5:c.*667A>G (NIPBL)	NP_056199.2:n.*667A>G