Canonical Allele Identifier: CA359522087

Gene: NIPBL CPLANE1

Linked Data

• MyVariant Identifiers: chr5:g.37064682G>T (hg19) ; chr5:g.37064580G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37064580G>T , CM000667.2:g.37064580G>T	GRCh38
NC_000005.9:g.37064682G>T , CM000667.1:g.37064682G>T	GRCh37
NC_000005.8:g.37100439G>T	NCBI36
NG_006987.1:g.192698G>T
NG_006987.2:g.192698G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.8103G>T (NIPBL) MANE Select	ENSP00000282516.8:p.Met2701Ile
ENST00000652901.1:c.*47G>T (NIPBL)	ENSP00000499536.1:n.*47G>T
ENST00000282516.12:c.8103G>T (NIPBL)	ENSP00000282516.8:p.Met2701Ile
ENST00000514335.1:n.2026G>T (NIPBL)
ENST00000621733.1:c.3G>T (NIPBL)	ENSP00000480694.1:p.Met1Ile
NM_015384.4:c.*557G>T (NIPBL)	NP_056199.2:n.*557G>T
NM_133433.3:c.8103G>T (NIPBL)	NP_597677.2:p.Met2701Ile
XM_005248280.2:c.*47G>T (NIPBL)	XP_005248337.1:n.*47G>T
XM_005248282.3:c.7359G>T (NIPBL)	XP_005248339.2:p.Met2453Ile
XM_006714467.2:c.7956G>T (NIPBL)	XP_006714530.1:p.Met2652Ile
XM_006714468.1:c.7905G>T (NIPBL)	XP_006714531.1:p.Met2635Ile
XM_011514014.1:c.7722G>T (NIPBL)	XP_011512316.1:p.Met2574Ile
XM_005248280.3:c.*47G>T (NIPBL)	XP_005248337.1:n.*47G>T
XM_005248282.5:c.7443G>T (NIPBL)	XP_005248339.3:p.Met2481Ile
XM_006714468.2:c.7905G>T (NIPBL)	XP_006714531.1:p.Met2635Ile
XM_017009329.1:c.*47G>T (NIPBL)	XP_016864818.1:n.*47G>T
XM_017009330.2:c.6486G>T (NIPBL)	XP_016864819.1:p.Met2162Ile
XM_017009331.1:c.6477G>T (NIPBL)	XP_016864820.1:p.Met2159Ile
XR_925644.2:n.12102C>A (CPLANE1)
NM_133433.4:c.8103G>T (NIPBL) MANE Select	NP_597677.2:p.Met2701Ile
NM_015384.5:c.*557G>T (NIPBL)	NP_056199.2:n.*557G>T