Canonical Allele Identifier: CA359522721

Gene: NIPBL CPLANE1

Linked Data

• MyVariant Identifiers: chr5:g.37064828A>C (hg19) ; chr5:g.37064726A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37064726A>C , CM000667.2:g.37064726A>C	GRCh38
NC_000005.9:g.37064828A>C , CM000667.1:g.37064828A>C	GRCh37
NC_000005.8:g.37100585A>C	NCBI36
NG_006987.1:g.192844A>C
NG_006987.2:g.192844A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.8249A>C (NIPBL) MANE Select	ENSP00000282516.8:p.Glu2750Ala
ENST00000652901.1:c.*193A>C (NIPBL)	ENSP00000499536.1:n.*193A>C
ENST00000282516.12:c.8249A>C (NIPBL)	ENSP00000282516.8:p.Glu2750Ala
ENST00000514335.1:n.2172A>C (NIPBL)
ENST00000621733.1:c.149A>C (NIPBL)	ENSP00000480694.1:p.Glu50Ala
NM_015384.4:c.*703A>C (NIPBL)	NP_056199.2:n.*703A>C
NM_133433.3:c.8249A>C (NIPBL)	NP_597677.2:p.Glu2750Ala
XM_005248280.2:c.*193A>C (NIPBL)	XP_005248337.1:n.*193A>C
XM_005248282.3:c.7505A>C (NIPBL)	XP_005248339.2:p.Glu2502Ala
XM_006714467.2:c.8102A>C (NIPBL)	XP_006714530.1:p.Glu2701Ala
XM_006714468.1:c.8051A>C (NIPBL)	XP_006714531.1:p.Glu2684Ala
XM_011514014.1:c.7868A>C (NIPBL)	XP_011512316.1:p.Glu2623Ala
XM_005248280.3:c.*193A>C (NIPBL)	XP_005248337.1:n.*193A>C
XM_005248282.5:c.7589A>C (NIPBL)	XP_005248339.3:p.Glu2530Ala
XM_006714468.2:c.8051A>C (NIPBL)	XP_006714531.1:p.Glu2684Ala
XM_017009329.1:c.*193A>C (NIPBL)	XP_016864818.1:n.*193A>C
XM_017009330.2:c.6632A>C (NIPBL)	XP_016864819.1:p.Glu2211Ala
XM_017009331.1:c.6623A>C (NIPBL)	XP_016864820.1:p.Glu2208Ala
XR_925644.2:n.11956T>G (CPLANE1)
NM_133433.4:c.8249A>C (NIPBL) MANE Select	NP_597677.2:p.Glu2750Ala
NM_015384.5:c.*703A>C (NIPBL)	NP_056199.2:n.*703A>C