Canonical Allele Identifier: CA359523750

Gene: NIPBL CPLANE1

Linked Data

• MyVariant Identifiers: chr5:g.37064960C>A (hg19) ; chr5:g.37064858C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37064858C>A , CM000667.2:g.37064858C>A	GRCh38
NC_000005.9:g.37064960C>A , CM000667.1:g.37064960C>A	GRCh37
NC_000005.8:g.37100717C>A	NCBI36
NG_006987.1:g.192976C>A
NG_006987.2:g.192976C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.8381C>A (NIPBL) MANE Select	ENSP00000282516.8:p.Ser2794Tyr
ENST00000652901.1:c.*325C>A (NIPBL)	ENSP00000499536.1:n.*325C>A
ENST00000282516.12:c.8381C>A (NIPBL)	ENSP00000282516.8:p.Ser2794Tyr
ENST00000514335.1:n.2304C>A (NIPBL)
ENST00000621733.1:c.281C>A (NIPBL)	ENSP00000480694.1:p.Ser94Tyr
NM_015384.4:c.*835C>A (NIPBL)	NP_056199.2:n.*835C>A
NM_133433.3:c.8381C>A (NIPBL)	NP_597677.2:p.Ser2794Tyr
XM_005248280.2:c.*325C>A (NIPBL)	XP_005248337.1:n.*325C>A
XM_005248282.3:c.7637C>A (NIPBL)	XP_005248339.2:p.Ser2546Tyr
XM_006714467.2:c.8234C>A (NIPBL)	XP_006714530.1:p.Ser2745Tyr
XM_006714468.1:c.8183C>A (NIPBL)	XP_006714531.1:p.Ser2728Tyr
XM_011514014.1:c.8000C>A (NIPBL)	XP_011512316.1:p.Ser2667Tyr
XM_005248280.3:c.*325C>A (NIPBL)	XP_005248337.1:n.*325C>A
XM_005248282.5:c.7721C>A (NIPBL)	XP_005248339.3:p.Ser2574Tyr
XM_006714468.2:c.8183C>A (NIPBL)	XP_006714531.1:p.Ser2728Tyr
XM_017009329.1:c.*325C>A (NIPBL)	XP_016864818.1:n.*325C>A
XM_017009330.2:c.6764C>A (NIPBL)	XP_016864819.1:p.Ser2255Tyr
XM_017009331.1:c.6755C>A (NIPBL)	XP_016864820.1:p.Ser2252Tyr
XR_925644.2:n.11824G>T (CPLANE1)
NM_133433.4:c.8381C>A (NIPBL) MANE Select	NP_597677.2:p.Ser2794Tyr
NM_015384.5:c.*835C>A (NIPBL)	NP_056199.2:n.*835C>A