Canonical Allele Identifier: CA359522301

Gene: NIPBL CPLANE1

Linked Data

• MyVariant Identifiers: chr5:g.37064726C>G (hg19) ; chr5:g.37064624C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37064624C>G , CM000667.2:g.37064624C>G	GRCh38
NC_000005.9:g.37064726C>G , CM000667.1:g.37064726C>G	GRCh37
NC_000005.8:g.37100483C>G	NCBI36
NG_006987.1:g.192742C>G
NG_006987.2:g.192742C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.8147C>G (NIPBL) MANE Select	ENSP00000282516.8:p.Pro2716Arg
ENST00000652901.1:c.*91C>G (NIPBL)	ENSP00000499536.1:n.*91C>G
ENST00000282516.12:c.8147C>G (NIPBL)	ENSP00000282516.8:p.Pro2716Arg
ENST00000514335.1:n.2070C>G (NIPBL)
ENST00000621733.1:c.47C>G (NIPBL)	ENSP00000480694.1:p.Pro16Arg
NM_015384.4:c.*601C>G (NIPBL)	NP_056199.2:n.*601C>G
NM_133433.3:c.8147C>G (NIPBL)	NP_597677.2:p.Pro2716Arg
XM_005248280.2:c.*91C>G (NIPBL)	XP_005248337.1:n.*91C>G
XM_005248282.3:c.7403C>G (NIPBL)	XP_005248339.2:p.Pro2468Arg
XM_006714467.2:c.8000C>G (NIPBL)	XP_006714530.1:p.Pro2667Arg
XM_006714468.1:c.7949C>G (NIPBL)	XP_006714531.1:p.Pro2650Arg
XM_011514014.1:c.7766C>G (NIPBL)	XP_011512316.1:p.Pro2589Arg
XM_005248280.3:c.*91C>G (NIPBL)	XP_005248337.1:n.*91C>G
XM_005248282.5:c.7487C>G (NIPBL)	XP_005248339.3:p.Pro2496Arg
XM_006714468.2:c.7949C>G (NIPBL)	XP_006714531.1:p.Pro2650Arg
XM_017009329.1:c.*91C>G (NIPBL)	XP_016864818.1:n.*91C>G
XM_017009330.2:c.6530C>G (NIPBL)	XP_016864819.1:p.Pro2177Arg
XM_017009331.1:c.6521C>G (NIPBL)	XP_016864820.1:p.Pro2174Arg
XR_925644.2:n.12058G>C (CPLANE1)
NM_133433.4:c.8147C>G (NIPBL) MANE Select	NP_597677.2:p.Pro2716Arg
NM_015384.5:c.*601C>G (NIPBL)	NP_056199.2:n.*601C>G