Canonical Allele Identifier: CA359522593

Gene: NIPBL CPLANE1

Linked Data

• MyVariant Identifiers: chr5:g.37064798T>G (hg19) ; chr5:g.37064696T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37064696T>G , CM000667.2:g.37064696T>G	GRCh38
NC_000005.9:g.37064798T>G , CM000667.1:g.37064798T>G	GRCh37
NC_000005.8:g.37100555T>G	NCBI36
NG_006987.1:g.192814T>G
NG_006987.2:g.192814T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.8219T>G (NIPBL) MANE Select	ENSP00000282516.8:p.Met2740Arg
ENST00000652901.1:c.*163T>G (NIPBL)	ENSP00000499536.1:n.*163T>G
ENST00000282516.12:c.8219T>G (NIPBL)	ENSP00000282516.8:p.Met2740Arg
ENST00000514335.1:n.2142T>G (NIPBL)
ENST00000621733.1:c.119T>G (NIPBL)	ENSP00000480694.1:p.Met40Arg
NM_015384.4:c.*673T>G (NIPBL)	NP_056199.2:n.*673T>G
NM_133433.3:c.8219T>G (NIPBL)	NP_597677.2:p.Met2740Arg
XM_005248280.2:c.*163T>G (NIPBL)	XP_005248337.1:n.*163T>G
XM_005248282.3:c.7475T>G (NIPBL)	XP_005248339.2:p.Met2492Arg
XM_006714467.2:c.8072T>G (NIPBL)	XP_006714530.1:p.Met2691Arg
XM_006714468.1:c.8021T>G (NIPBL)	XP_006714531.1:p.Met2674Arg
XM_011514014.1:c.7838T>G (NIPBL)	XP_011512316.1:p.Met2613Arg
XM_005248280.3:c.*163T>G (NIPBL)	XP_005248337.1:n.*163T>G
XM_005248282.5:c.7559T>G (NIPBL)	XP_005248339.3:p.Met2520Arg
XM_006714468.2:c.8021T>G (NIPBL)	XP_006714531.1:p.Met2674Arg
XM_017009329.1:c.*163T>G (NIPBL)	XP_016864818.1:n.*163T>G
XM_017009330.2:c.6602T>G (NIPBL)	XP_016864819.1:p.Met2201Arg
XM_017009331.1:c.6593T>G (NIPBL)	XP_016864820.1:p.Met2198Arg
XR_925644.2:n.11986A>C (CPLANE1)
NM_133433.4:c.8219T>G (NIPBL) MANE Select	NP_597677.2:p.Met2740Arg
NM_015384.5:c.*673T>G (NIPBL)	NP_056199.2:n.*673T>G