Canonical Allele Identifier: CA359522350

Gene: NIPBL CPLANE1

Linked Data

• dbSNP Id: rs1755209484
• gnomAD v3: 5-37064633-A-C
• gnomAD v4: 5-37064633-A-C
• MyVariant Identifiers: chr5:g.37064735A>C (hg19) ; chr5:g.37064633A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37064633A>C , CM000667.2:g.37064633A>C	GRCh38
NC_000005.9:g.37064735A>C , CM000667.1:g.37064735A>C	GRCh37
NC_000005.8:g.37100492A>C	NCBI36
NG_006987.1:g.192751A>C
NG_006987.2:g.192751A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.8156A>C (NIPBL) MANE Select	ENSP00000282516.8:p.Lys2719Thr
ENST00000652901.1:c.*100A>C (NIPBL)	ENSP00000499536.1:n.*100A>C
ENST00000282516.12:c.8156A>C (NIPBL)	ENSP00000282516.8:p.Lys2719Thr
ENST00000514335.1:n.2079A>C (NIPBL)
ENST00000621733.1:c.56A>C (NIPBL)	ENSP00000480694.1:p.Lys19Thr
NM_015384.4:c.*610A>C (NIPBL)	NP_056199.2:n.*610A>C
NM_133433.3:c.8156A>C (NIPBL)	NP_597677.2:p.Lys2719Thr
XM_005248280.2:c.*100A>C (NIPBL)	XP_005248337.1:n.*100A>C
XM_005248282.3:c.7412A>C (NIPBL)	XP_005248339.2:p.Lys2471Thr
XM_006714467.2:c.8009A>C (NIPBL)	XP_006714530.1:p.Lys2670Thr
XM_006714468.1:c.7958A>C (NIPBL)	XP_006714531.1:p.Lys2653Thr
XM_011514014.1:c.7775A>C (NIPBL)	XP_011512316.1:p.Lys2592Thr
XM_005248280.3:c.*100A>C (NIPBL)	XP_005248337.1:n.*100A>C
XM_005248282.5:c.7496A>C (NIPBL)	XP_005248339.3:p.Lys2499Thr
XM_006714468.2:c.7958A>C (NIPBL)	XP_006714531.1:p.Lys2653Thr
XM_017009329.1:c.*100A>C (NIPBL)	XP_016864818.1:n.*100A>C
XM_017009330.2:c.6539A>C (NIPBL)	XP_016864819.1:p.Lys2180Thr
XM_017009331.1:c.6530A>C (NIPBL)	XP_016864820.1:p.Lys2177Thr
XR_925644.2:n.12049T>G (CPLANE1)
NM_133433.4:c.8156A>C (NIPBL) MANE Select	NP_597677.2:p.Lys2719Thr
NM_015384.5:c.*610A>C (NIPBL)	NP_056199.2:n.*610A>C