Canonical Allele Identifier: CA359523825

Gene: NIPBL CPLANE1

Linked Data

• MyVariant Identifiers: chr5:g.37064968G>A (hg19) ; chr5:g.37064866G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37064866G>A , CM000667.2:g.37064866G>A	GRCh38
NC_000005.9:g.37064968G>A , CM000667.1:g.37064968G>A	GRCh37
NC_000005.8:g.37100725G>A	NCBI36
NG_006987.1:g.192984G>A
NG_006987.2:g.192984G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.8389G>A (NIPBL) MANE Select	ENSP00000282516.8:p.Ala2797Thr
ENST00000652901.1:c.*333G>A (NIPBL)	ENSP00000499536.1:n.*333G>A
ENST00000282516.12:c.8389G>A (NIPBL)	ENSP00000282516.8:p.Ala2797Thr
ENST00000514335.1:n.2312G>A (NIPBL)
ENST00000621733.1:c.289G>A (NIPBL)	ENSP00000480694.1:p.Ala97Thr
NM_015384.4:c.*843G>A (NIPBL)	NP_056199.2:n.*843G>A
NM_133433.3:c.8389G>A (NIPBL)	NP_597677.2:p.Ala2797Thr
XM_005248280.2:c.*333G>A (NIPBL)	XP_005248337.1:n.*333G>A
XM_005248282.3:c.7645G>A (NIPBL)	XP_005248339.2:p.Ala2549Thr
XM_006714467.2:c.8242G>A (NIPBL)	XP_006714530.1:p.Ala2748Thr
XM_006714468.1:c.8191G>A (NIPBL)	XP_006714531.1:p.Ala2731Thr
XM_011514014.1:c.8008G>A (NIPBL)	XP_011512316.1:p.Ala2670Thr
XM_005248280.3:c.*333G>A (NIPBL)	XP_005248337.1:n.*333G>A
XM_005248282.5:c.7729G>A (NIPBL)	XP_005248339.3:p.Ala2577Thr
XM_006714468.2:c.8191G>A (NIPBL)	XP_006714531.1:p.Ala2731Thr
XM_017009329.1:c.*333G>A (NIPBL)	XP_016864818.1:n.*333G>A
XM_017009330.2:c.6772G>A (NIPBL)	XP_016864819.1:p.Ala2258Thr
XM_017009331.1:c.6763G>A (NIPBL)	XP_016864820.1:p.Ala2255Thr
XR_925644.2:n.11816C>T (CPLANE1)
NM_133433.4:c.8389G>A (NIPBL) MANE Select	NP_597677.2:p.Ala2797Thr
NM_015384.5:c.*843G>A (NIPBL)	NP_056199.2:n.*843G>A