Canonical Allele Identifier: CA359523759

Gene: NIPBL CPLANE1

Linked Data

• ClinVar Variation Id: 1299520
• ClinVar RCV Id: RCV001729992
• dbSNP Id: rs2149761303
• MyVariant Identifiers: chr5:g.37064963T>C (hg19) ; chr5:g.37064861T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37064861T>C , CM000667.2:g.37064861T>C	GRCh38
NC_000005.9:g.37064963T>C , CM000667.1:g.37064963T>C	GRCh37
NC_000005.8:g.37100720T>C	NCBI36
NG_006987.1:g.192979T>C
NG_006987.2:g.192979T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.8384T>C (NIPBL) MANE Select	ENSP00000282516.8:p.Leu2795Pro
ENST00000652901.1:c.*328T>C (NIPBL)	ENSP00000499536.1:n.*328T>C
ENST00000282516.12:c.8384T>C (NIPBL)	ENSP00000282516.8:p.Leu2795Pro
ENST00000514335.1:n.2307T>C (NIPBL)
ENST00000621733.1:c.284T>C (NIPBL)	ENSP00000480694.1:p.Leu95Pro
NM_015384.4:c.*838T>C (NIPBL)	NP_056199.2:n.*838T>C
NM_133433.3:c.8384T>C (NIPBL)	NP_597677.2:p.Leu2795Pro
XM_005248280.2:c.*328T>C (NIPBL)	XP_005248337.1:n.*328T>C
XM_005248282.3:c.7640T>C (NIPBL)	XP_005248339.2:p.Leu2547Pro
XM_006714467.2:c.8237T>C (NIPBL)	XP_006714530.1:p.Leu2746Pro
XM_006714468.1:c.8186T>C (NIPBL)	XP_006714531.1:p.Leu2729Pro
XM_011514014.1:c.8003T>C (NIPBL)	XP_011512316.1:p.Leu2668Pro
XM_005248280.3:c.*328T>C (NIPBL)	XP_005248337.1:n.*328T>C
XM_005248282.5:c.7724T>C (NIPBL)	XP_005248339.3:p.Leu2575Pro
XM_006714468.2:c.8186T>C (NIPBL)	XP_006714531.1:p.Leu2729Pro
XM_017009329.1:c.*328T>C (NIPBL)	XP_016864818.1:n.*328T>C
XM_017009330.2:c.6767T>C (NIPBL)	XP_016864819.1:p.Leu2256Pro
XM_017009331.1:c.6758T>C (NIPBL)	XP_016864820.1:p.Leu2253Pro
XR_925644.2:n.11821A>G (CPLANE1)
NM_133433.4:c.8384T>C (NIPBL) MANE Select	NP_597677.2:p.Leu2795Pro
NM_015384.5:c.*838T>C (NIPBL)	NP_056199.2:n.*838T>C