Canonical Allele Identifier: CA359522709

Gene: NIPBL CPLANE1

Linked Data

• MyVariant Identifiers: chr5:g.37064825C>A (hg19) ; chr5:g.37064723C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37064723C>A , CM000667.2:g.37064723C>A	GRCh38
NC_000005.9:g.37064825C>A , CM000667.1:g.37064825C>A	GRCh37
NC_000005.8:g.37100582C>A	NCBI36
NG_006987.1:g.192841C>A
NG_006987.2:g.192841C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.8246C>A (NIPBL) MANE Select	ENSP00000282516.8:p.Thr2749Asn
ENST00000652901.1:c.*190C>A (NIPBL)	ENSP00000499536.1:n.*190C>A
ENST00000282516.12:c.8246C>A (NIPBL)	ENSP00000282516.8:p.Thr2749Asn
ENST00000514335.1:n.2169C>A (NIPBL)
ENST00000621733.1:c.146C>A (NIPBL)	ENSP00000480694.1:p.Thr49Asn
NM_015384.4:c.*700C>A (NIPBL)	NP_056199.2:n.*700C>A
NM_133433.3:c.8246C>A (NIPBL)	NP_597677.2:p.Thr2749Asn
XM_005248280.2:c.*190C>A (NIPBL)	XP_005248337.1:n.*190C>A
XM_005248282.3:c.7502C>A (NIPBL)	XP_005248339.2:p.Thr2501Asn
XM_006714467.2:c.8099C>A (NIPBL)	XP_006714530.1:p.Thr2700Asn
XM_006714468.1:c.8048C>A (NIPBL)	XP_006714531.1:p.Thr2683Asn
XM_011514014.1:c.7865C>A (NIPBL)	XP_011512316.1:p.Thr2622Asn
XM_005248280.3:c.*190C>A (NIPBL)	XP_005248337.1:n.*190C>A
XM_005248282.5:c.7586C>A (NIPBL)	XP_005248339.3:p.Thr2529Asn
XM_006714468.2:c.8048C>A (NIPBL)	XP_006714531.1:p.Thr2683Asn
XM_017009329.1:c.*190C>A (NIPBL)	XP_016864818.1:n.*190C>A
XM_017009330.2:c.6629C>A (NIPBL)	XP_016864819.1:p.Thr2210Asn
XM_017009331.1:c.6620C>A (NIPBL)	XP_016864820.1:p.Thr2207Asn
XR_925644.2:n.11959G>T (CPLANE1)
NM_133433.4:c.8246C>A (NIPBL) MANE Select	NP_597677.2:p.Thr2749Asn
NM_015384.5:c.*700C>A (NIPBL)	NP_056199.2:n.*700C>A