Canonical Allele Identifier: CA359521765

Gene: NIPBL CPLANE1

Linked Data

• MyVariant Identifiers: chr5:g.37064637A>C (hg19) ; chr5:g.37064535A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37064535A>C , CM000667.2:g.37064535A>C	GRCh38
NC_000005.9:g.37064637A>C , CM000667.1:g.37064637A>C	GRCh37
NC_000005.8:g.37100394A>C	NCBI36
NG_006987.1:g.192653A>C
NG_006987.2:g.192653A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.8058A>C (NIPBL) MANE Select	ENSP00000282516.8:p.Arg2686Ser
ENST00000652901.1:c.*2A>C (NIPBL)	ENSP00000499536.1:n.*2A>C
ENST00000282516.12:c.8058A>C (NIPBL)	ENSP00000282516.8:p.Arg2686Ser
ENST00000514335.1:n.1981A>C (NIPBL)
ENST00000621733.1:c.1-43A>C (NIPBL)	ENSP00000480694.1:n.1-43A>C
NM_015384.4:c.*512A>C (NIPBL)	NP_056199.2:n.*512A>C
NM_133433.3:c.8058A>C (NIPBL)	NP_597677.2:p.Arg2686Ser
XM_005248280.2:c.*2A>C (NIPBL)	XP_005248337.1:n.*2A>C
XM_005248282.3:c.7314A>C (NIPBL)	XP_005248339.2:p.Arg2438Ser
XM_006714467.2:c.7911A>C (NIPBL)	XP_006714530.1:p.Arg2637Ser
XM_006714468.1:c.7860A>C (NIPBL)	XP_006714531.1:p.Arg2620Ser
XM_011514014.1:c.7677A>C (NIPBL)	XP_011512316.1:p.Arg2559Ser
XM_005248280.3:c.*2A>C (NIPBL)	XP_005248337.1:n.*2A>C
XM_005248282.5:c.7398A>C (NIPBL)	XP_005248339.3:p.Arg2466Ser
XM_006714468.2:c.7860A>C (NIPBL)	XP_006714531.1:p.Arg2620Ser
XM_017009329.1:c.*2A>C (NIPBL)	XP_016864818.1:n.*2A>C
XM_017009330.2:c.6441A>C (NIPBL)	XP_016864819.1:p.Arg2147Ser
XM_017009331.1:c.6432A>C (NIPBL)	XP_016864820.1:p.Arg2144Ser
XR_925644.2:n.12147T>G (CPLANE1)
NM_133433.4:c.8058A>C (NIPBL) MANE Select	NP_597677.2:p.Arg2686Ser
NM_015384.5:c.*512A>C (NIPBL)	NP_056199.2:n.*512A>C