Canonical Allele Identifier: CA359521783

Gene: NIPBL CPLANE1

Linked Data

• dbSNP Id: rs1755202540
• MyVariant Identifiers: chr5:g.37064640G>T (hg19) ; chr5:g.37064538G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37064538G>T , CM000667.2:g.37064538G>T	GRCh38
NC_000005.9:g.37064640G>T , CM000667.1:g.37064640G>T	GRCh37
NC_000005.8:g.37100397G>T	NCBI36
NG_006987.1:g.192656G>T
NG_006987.2:g.192656G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.8061G>T (NIPBL) MANE Select	ENSP00000282516.8:p.Arg2687Ser
ENST00000652901.1:c.*5G>T (NIPBL)	ENSP00000499536.1:n.*5G>T
ENST00000282516.12:c.8061G>T (NIPBL)	ENSP00000282516.8:p.Arg2687Ser
ENST00000514335.1:n.1984G>T (NIPBL)
ENST00000621733.1:c.1-40G>T (NIPBL)	ENSP00000480694.1:n.1-40G>T
NM_015384.4:c.*515G>T (NIPBL)	NP_056199.2:n.*515G>T
NM_133433.3:c.8061G>T (NIPBL)	NP_597677.2:p.Arg2687Ser
XM_005248280.2:c.*5G>T (NIPBL)	XP_005248337.1:n.*5G>T
XM_005248282.3:c.7317G>T (NIPBL)	XP_005248339.2:p.Arg2439Ser
XM_006714467.2:c.7914G>T (NIPBL)	XP_006714530.1:p.Arg2638Ser
XM_006714468.1:c.7863G>T (NIPBL)	XP_006714531.1:p.Arg2621Ser
XM_011514014.1:c.7680G>T (NIPBL)	XP_011512316.1:p.Arg2560Ser
XM_005248280.3:c.*5G>T (NIPBL)	XP_005248337.1:n.*5G>T
XM_005248282.5:c.7401G>T (NIPBL)	XP_005248339.3:p.Arg2467Ser
XM_006714468.2:c.7863G>T (NIPBL)	XP_006714531.1:p.Arg2621Ser
XM_017009329.1:c.*5G>T (NIPBL)	XP_016864818.1:n.*5G>T
XM_017009330.2:c.6444G>T (NIPBL)	XP_016864819.1:p.Arg2148Ser
XM_017009331.1:c.6435G>T (NIPBL)	XP_016864820.1:p.Arg2145Ser
XR_925644.2:n.12144C>A (CPLANE1)
NM_133433.4:c.8061G>T (NIPBL) MANE Select	NP_597677.2:p.Arg2687Ser
NM_015384.5:c.*515G>T (NIPBL)	NP_056199.2:n.*515G>T