Canonical Allele Identifier: CA3237361

Gene: NIPBL CPLANE1

Linked Data

• dbSNP Id: rs766097454
• ExAC: 5:37064961 C / T
• gnomAD v2: 5-37064961-C-T
• gnomAD v3: 5-37064859-C-T
• gnomAD v4: 5-37064859-C-T
• MyVariant Identifiers: chr5:g.37064961C>T (hg19) ; chr5:g.37064859C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37064859C>T , CM000667.2:g.37064859C>T	GRCh38
NC_000005.9:g.37064961C>T , CM000667.1:g.37064961C>T	GRCh37
NC_000005.8:g.37100718C>T	NCBI36
NG_006987.1:g.192977C>T
NG_006987.2:g.192977C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.8382C>T (NIPBL) MANE Select	ENSP00000282516.8:p.Ser2794=
ENST00000652901.1:c.*326C>T (NIPBL)	ENSP00000499536.1:n.*326C>T
ENST00000282516.12:c.8382C>T (NIPBL)	ENSP00000282516.8:p.Ser2794=
ENST00000514335.1:n.2305C>T (NIPBL)
ENST00000621733.1:c.282C>T (NIPBL)	ENSP00000480694.1:p.Ser94=
NM_015384.4:c.*836C>T (NIPBL)	NP_056199.2:n.*836C>T
NM_133433.3:c.8382C>T (NIPBL)	NP_597677.2:p.Ser2794=
XM_005248280.2:c.*326C>T (NIPBL)	XP_005248337.1:n.*326C>T
XM_005248282.3:c.7638C>T (NIPBL)	XP_005248339.2:p.Ser2546=
XM_006714467.2:c.8235C>T (NIPBL)	XP_006714530.1:p.Ser2745=
XM_006714468.1:c.8184C>T (NIPBL)	XP_006714531.1:p.Ser2728=
XM_011514014.1:c.8001C>T (NIPBL)	XP_011512316.1:p.Ser2667=
XM_005248280.3:c.*326C>T (NIPBL)	XP_005248337.1:n.*326C>T
XM_005248282.5:c.7722C>T (NIPBL)	XP_005248339.3:p.Ser2574=
XM_006714468.2:c.8184C>T (NIPBL)	XP_006714531.1:p.Ser2728=
XM_017009329.1:c.*326C>T (NIPBL)	XP_016864818.1:n.*326C>T
XM_017009330.2:c.6765C>T (NIPBL)	XP_016864819.1:p.Ser2255=
XM_017009331.1:c.6756C>T (NIPBL)	XP_016864820.1:p.Ser2252=
XR_925644.2:n.11823G>A (CPLANE1)
NM_133433.4:c.8382C>T (NIPBL) MANE Select	NP_597677.2:p.Ser2794=
NM_015384.5:c.*836C>T (NIPBL)	NP_056199.2:n.*836C>T