Canonical Allele Identifier: CA359521956

Gene: NIPBL CPLANE1

Linked Data

• MyVariant Identifiers: chr5:g.37064667G>C (hg19) ; chr5:g.37064565G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37064565G>C , CM000667.2:g.37064565G>C	GRCh38
NC_000005.9:g.37064667G>C , CM000667.1:g.37064667G>C	GRCh37
NC_000005.8:g.37100424G>C	NCBI36
NG_006987.1:g.192683G>C
NG_006987.2:g.192683G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.8088G>C (NIPBL) MANE Select	ENSP00000282516.8:p.Glu2696Asp
ENST00000652901.1:c.*32G>C (NIPBL)	ENSP00000499536.1:n.*32G>C
ENST00000282516.12:c.8088G>C (NIPBL)	ENSP00000282516.8:p.Glu2696Asp
ENST00000514335.1:n.2011G>C (NIPBL)
ENST00000621733.1:c.1-13G>C (NIPBL)	ENSP00000480694.1:n.1-13G>C
NM_015384.4:c.*542G>C (NIPBL)	NP_056199.2:n.*542G>C
NM_133433.3:c.8088G>C (NIPBL)	NP_597677.2:p.Glu2696Asp
XM_005248280.2:c.*32G>C (NIPBL)	XP_005248337.1:n.*32G>C
XM_005248282.3:c.7344G>C (NIPBL)	XP_005248339.2:p.Glu2448Asp
XM_006714467.2:c.7941G>C (NIPBL)	XP_006714530.1:p.Glu2647Asp
XM_006714468.1:c.7890G>C (NIPBL)	XP_006714531.1:p.Glu2630Asp
XM_011514014.1:c.7707G>C (NIPBL)	XP_011512316.1:p.Glu2569Asp
XM_005248280.3:c.*32G>C (NIPBL)	XP_005248337.1:n.*32G>C
XM_005248282.5:c.7428G>C (NIPBL)	XP_005248339.3:p.Glu2476Asp
XM_006714468.2:c.7890G>C (NIPBL)	XP_006714531.1:p.Glu2630Asp
XM_017009329.1:c.*32G>C (NIPBL)	XP_016864818.1:n.*32G>C
XM_017009330.2:c.6471G>C (NIPBL)	XP_016864819.1:p.Glu2157Asp
XM_017009331.1:c.6462G>C (NIPBL)	XP_016864820.1:p.Glu2154Asp
XR_925644.2:n.12117C>G (CPLANE1)
NM_133433.4:c.8088G>C (NIPBL) MANE Select	NP_597677.2:p.Glu2696Asp
NM_015384.5:c.*542G>C (NIPBL)	NP_056199.2:n.*542G>C