Canonical Allele Identifier: CA359522078

Gene: NIPBL CPLANE1

Linked Data

• MyVariant Identifiers: chr5:g.37064681T>G (hg19) ; chr5:g.37064579T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37064579T>G , CM000667.2:g.37064579T>G	GRCh38
NC_000005.9:g.37064681T>G , CM000667.1:g.37064681T>G	GRCh37
NC_000005.8:g.37100438T>G	NCBI36
NG_006987.1:g.192697T>G
NG_006987.2:g.192697T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.8102T>G (NIPBL) MANE Select	ENSP00000282516.8:p.Met2701Arg
ENST00000652901.1:c.*46T>G (NIPBL)	ENSP00000499536.1:n.*46T>G
ENST00000282516.12:c.8102T>G (NIPBL)	ENSP00000282516.8:p.Met2701Arg
ENST00000514335.1:n.2025T>G (NIPBL)
ENST00000621733.1:c.2T>G (NIPBL)	ENSP00000480694.1:p.Met1Arg
NM_015384.4:c.*556T>G (NIPBL)	NP_056199.2:n.*556T>G
NM_133433.3:c.8102T>G (NIPBL)	NP_597677.2:p.Met2701Arg
XM_005248280.2:c.*46T>G (NIPBL)	XP_005248337.1:n.*46T>G
XM_005248282.3:c.7358T>G (NIPBL)	XP_005248339.2:p.Met2453Arg
XM_006714467.2:c.7955T>G (NIPBL)	XP_006714530.1:p.Met2652Arg
XM_006714468.1:c.7904T>G (NIPBL)	XP_006714531.1:p.Met2635Arg
XM_011514014.1:c.7721T>G (NIPBL)	XP_011512316.1:p.Met2574Arg
XM_005248280.3:c.*46T>G (NIPBL)	XP_005248337.1:n.*46T>G
XM_005248282.5:c.7442T>G (NIPBL)	XP_005248339.3:p.Met2481Arg
XM_006714468.2:c.7904T>G (NIPBL)	XP_006714531.1:p.Met2635Arg
XM_017009329.1:c.*46T>G (NIPBL)	XP_016864818.1:n.*46T>G
XM_017009330.2:c.6485T>G (NIPBL)	XP_016864819.1:p.Met2162Arg
XM_017009331.1:c.6476T>G (NIPBL)	XP_016864820.1:p.Met2159Arg
XR_925644.2:n.12103A>C (CPLANE1)
NM_133433.4:c.8102T>G (NIPBL) MANE Select	NP_597677.2:p.Met2701Arg
NM_015384.5:c.*556T>G (NIPBL)	NP_056199.2:n.*556T>G