Canonical Allele Identifier: CA443916487

Gene: NIPBL CPLANE1

Linked Data

• ClinVar Variation Id: 904295
• ClinVar RCV Id: RCV001152140
• dbSNP Id: rs1187325987
• gnomAD v2: 5-37064718-T-C
• gnomAD v3: 5-37064616-T-C
• gnomAD v4: 5-37064616-T-C
• MyVariant Identifiers: chr5:g.37064718T>C (hg19) ; chr5:g.37064616T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37064616T>C , CM000667.2:g.37064616T>C	GRCh38
NC_000005.9:g.37064718T>C , CM000667.1:g.37064718T>C	GRCh37
NC_000005.8:g.37100475T>C	NCBI36
NG_006987.1:g.192734T>C
NG_006987.2:g.192734T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.8139T>C (NIPBL) MANE Select	ENSP00000282516.8:p.Ile2713=
ENST00000652901.1:c.*83T>C (NIPBL)	ENSP00000499536.1:n.*83T>C
ENST00000282516.12:c.8139T>C (NIPBL)	ENSP00000282516.8:p.Ile2713=
ENST00000514335.1:n.2062T>C (NIPBL)
ENST00000621733.1:c.39T>C (NIPBL)	ENSP00000480694.1:p.Ile13=
NM_015384.4:c.*593T>C (NIPBL)	NP_056199.2:n.*593T>C
NM_133433.3:c.8139T>C (NIPBL)	NP_597677.2:p.Ile2713=
XM_005248280.2:c.*83T>C (NIPBL)	XP_005248337.1:n.*83T>C
XM_005248282.3:c.7395T>C (NIPBL)	XP_005248339.2:p.Ile2465=
XM_006714467.2:c.7992T>C (NIPBL)	XP_006714530.1:p.Ile2664=
XM_006714468.1:c.7941T>C (NIPBL)	XP_006714531.1:p.Ile2647=
XM_011514014.1:c.7758T>C (NIPBL)	XP_011512316.1:p.Ile2586=
XM_005248280.3:c.*83T>C (NIPBL)	XP_005248337.1:n.*83T>C
XM_005248282.5:c.7479T>C (NIPBL)	XP_005248339.3:p.Ile2493=
XM_006714468.2:c.7941T>C (NIPBL)	XP_006714531.1:p.Ile2647=
XM_017009329.1:c.*83T>C (NIPBL)	XP_016864818.1:n.*83T>C
XM_017009330.2:c.6522T>C (NIPBL)	XP_016864819.1:p.Ile2174=
XM_017009331.1:c.6513T>C (NIPBL)	XP_016864820.1:p.Ile2171=
XR_925644.2:n.12066A>G (CPLANE1)
NM_133433.4:c.8139T>C (NIPBL) MANE Select	NP_597677.2:p.Ile2713=
NM_015384.5:c.*593T>C (NIPBL)	NP_056199.2:n.*593T>C