Canonical Allele Identifier: CA359523811

Gene: NIPBL CPLANE1

Linked Data

• MyVariant Identifiers: chr5:g.37064967T>G (hg19) ; chr5:g.37064865T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37064865T>G , CM000667.2:g.37064865T>G	GRCh38
NC_000005.9:g.37064967T>G , CM000667.1:g.37064967T>G	GRCh37
NC_000005.8:g.37100724T>G	NCBI36
NG_006987.1:g.192983T>G
NG_006987.2:g.192983T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.8388T>G (NIPBL) MANE Select	ENSP00000282516.8:p.Tyr2796Ter
ENST00000652901.1:c.*332T>G (NIPBL)	ENSP00000499536.1:n.*332T>G
ENST00000282516.12:c.8388T>G (NIPBL)	ENSP00000282516.8:p.Tyr2796Ter
ENST00000514335.1:n.2311T>G (NIPBL)
ENST00000621733.1:c.288T>G (NIPBL)	ENSP00000480694.1:p.Tyr96Ter
NM_015384.4:c.*842T>G (NIPBL)	NP_056199.2:n.*842T>G
NM_133433.3:c.8388T>G (NIPBL)	NP_597677.2:p.Tyr2796Ter
XM_005248280.2:c.*332T>G (NIPBL)	XP_005248337.1:n.*332T>G
XM_005248282.3:c.7644T>G (NIPBL)	XP_005248339.2:p.Tyr2548Ter
XM_006714467.2:c.8241T>G (NIPBL)	XP_006714530.1:p.Tyr2747Ter
XM_006714468.1:c.8190T>G (NIPBL)	XP_006714531.1:p.Tyr2730Ter
XM_011514014.1:c.8007T>G (NIPBL)	XP_011512316.1:p.Tyr2669Ter
XM_005248280.3:c.*332T>G (NIPBL)	XP_005248337.1:n.*332T>G
XM_005248282.5:c.7728T>G (NIPBL)	XP_005248339.3:p.Tyr2576Ter
XM_006714468.2:c.8190T>G (NIPBL)	XP_006714531.1:p.Tyr2730Ter
XM_017009329.1:c.*332T>G (NIPBL)	XP_016864818.1:n.*332T>G
XM_017009330.2:c.6771T>G (NIPBL)	XP_016864819.1:p.Tyr2257Ter
XM_017009331.1:c.6762T>G (NIPBL)	XP_016864820.1:p.Tyr2254Ter
XR_925644.2:n.11817A>C (CPLANE1)
NM_133433.4:c.8388T>G (NIPBL) MANE Select	NP_597677.2:p.Tyr2796Ter
NM_015384.5:c.*842T>G (NIPBL)	NP_056199.2:n.*842T>G