Canonical Allele Identifier: CA444096541

Gene: NIPBL CPLANE1

Linked Data

• MyVariant Identifiers: chr5:g.37064832T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37064730T>G , CM000667.2:g.37064730T>G	GRCh38
NC_000005.9:g.37064832T>G , CM000667.1:g.37064832T>G	GRCh37
NC_000005.8:g.37100589T>G	NCBI36
NG_006987.1:g.192848T>G
NG_006987.2:g.192848T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.8253T>G (NIPBL) MANE Select	ENSP00000282516.8:p.Ala2751=
ENST00000652901.1:c.*197T>G (NIPBL)	ENSP00000499536.1:n.*197T>G
ENST00000282516.12:c.8253T>G (NIPBL)	ENSP00000282516.8:p.Ala2751=
ENST00000514335.1:n.2176T>G (NIPBL)
ENST00000621733.1:c.153T>G (NIPBL)	ENSP00000480694.1:p.Ala51=
NM_015384.4:c.*707T>G (NIPBL)	NP_056199.2:n.*707T>G
NM_133433.3:c.8253T>G (NIPBL)	NP_597677.2:p.Ala2751=
XM_005248280.2:c.*197T>G (NIPBL)	XP_005248337.1:n.*197T>G
XM_005248282.3:c.7509T>G (NIPBL)	XP_005248339.2:p.Ala2503=
XM_006714467.2:c.8106T>G (NIPBL)	XP_006714530.1:p.Ala2702=
XM_006714468.1:c.8055T>G (NIPBL)	XP_006714531.1:p.Ala2685=
XM_011514014.1:c.7872T>G (NIPBL)	XP_011512316.1:p.Ala2624=
XM_005248280.3:c.*197T>G (NIPBL)	XP_005248337.1:n.*197T>G
XM_005248282.5:c.7593T>G (NIPBL)	XP_005248339.3:p.Ala2531=
XM_006714468.2:c.8055T>G (NIPBL)	XP_006714531.1:p.Ala2685=
XM_017009329.1:c.*197T>G (NIPBL)	XP_016864818.1:n.*197T>G
XM_017009330.2:c.6636T>G (NIPBL)	XP_016864819.1:p.Ala2212=
XM_017009331.1:c.6627T>G (NIPBL)	XP_016864820.1:p.Ala2209=
XR_925644.2:n.11952A>C (CPLANE1)
NM_133433.4:c.8253T>G (NIPBL) MANE Select	NP_597677.2:p.Ala2751=
NM_015384.5:c.*707T>G (NIPBL)	NP_056199.2:n.*707T>G