Canonical Allele Identifier: CA359522653

Gene: NIPBL CPLANE1

Linked Data

• MyVariant Identifiers: chr5:g.37064814T>A (hg19) ; chr5:g.37064712T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37064712T>A , CM000667.2:g.37064712T>A	GRCh38
NC_000005.9:g.37064814T>A , CM000667.1:g.37064814T>A	GRCh37
NC_000005.8:g.37100571T>A	NCBI36
NG_006987.1:g.192830T>A
NG_006987.2:g.192830T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.8235T>A (NIPBL) MANE Select	ENSP00000282516.8:p.Ser2745Arg
ENST00000652901.1:c.*179T>A (NIPBL)	ENSP00000499536.1:n.*179T>A
ENST00000282516.12:c.8235T>A (NIPBL)	ENSP00000282516.8:p.Ser2745Arg
ENST00000514335.1:n.2158T>A (NIPBL)
ENST00000621733.1:c.135T>A (NIPBL)	ENSP00000480694.1:p.Ser45Arg
NM_015384.4:c.*689T>A (NIPBL)	NP_056199.2:n.*689T>A
NM_133433.3:c.8235T>A (NIPBL)	NP_597677.2:p.Ser2745Arg
XM_005248280.2:c.*179T>A (NIPBL)	XP_005248337.1:n.*179T>A
XM_005248282.3:c.7491T>A (NIPBL)	XP_005248339.2:p.Ser2497Arg
XM_006714467.2:c.8088T>A (NIPBL)	XP_006714530.1:p.Ser2696Arg
XM_006714468.1:c.8037T>A (NIPBL)	XP_006714531.1:p.Ser2679Arg
XM_011514014.1:c.7854T>A (NIPBL)	XP_011512316.1:p.Ser2618Arg
XM_005248280.3:c.*179T>A (NIPBL)	XP_005248337.1:n.*179T>A
XM_005248282.5:c.7575T>A (NIPBL)	XP_005248339.3:p.Ser2525Arg
XM_006714468.2:c.8037T>A (NIPBL)	XP_006714531.1:p.Ser2679Arg
XM_017009329.1:c.*179T>A (NIPBL)	XP_016864818.1:n.*179T>A
XM_017009330.2:c.6618T>A (NIPBL)	XP_016864819.1:p.Ser2206Arg
XM_017009331.1:c.6609T>A (NIPBL)	XP_016864820.1:p.Ser2203Arg
XR_925644.2:n.11970A>T (CPLANE1)
NM_133433.4:c.8235T>A (NIPBL) MANE Select	NP_597677.2:p.Ser2745Arg
NM_015384.5:c.*689T>A (NIPBL)	NP_056199.2:n.*689T>A