Canonical Allele Identifier: CA359522455

Gene: NIPBL CPLANE1

Linked Data

• dbSNP Id: rs1427057668
• gnomAD v2: 5-37064764-C-G
• MyVariant Identifiers: chr5:g.37064764C>G (hg19) ; chr5:g.37064662C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37064662C>G , CM000667.2:g.37064662C>G	GRCh38
NC_000005.9:g.37064764C>G , CM000667.1:g.37064764C>G	GRCh37
NC_000005.8:g.37100521C>G	NCBI36
NG_006987.1:g.192780C>G
NG_006987.2:g.192780C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.8185C>G (NIPBL) MANE Select	ENSP00000282516.8:p.Gln2729Glu
ENST00000652901.1:c.*129C>G (NIPBL)	ENSP00000499536.1:n.*129C>G
ENST00000282516.12:c.8185C>G (NIPBL)	ENSP00000282516.8:p.Gln2729Glu
ENST00000514335.1:n.2108C>G (NIPBL)
ENST00000621733.1:c.85C>G (NIPBL)	ENSP00000480694.1:p.Gln29Glu
NM_015384.4:c.*639C>G (NIPBL)	NP_056199.2:n.*639C>G
NM_133433.3:c.8185C>G (NIPBL)	NP_597677.2:p.Gln2729Glu
XM_005248280.2:c.*129C>G (NIPBL)	XP_005248337.1:n.*129C>G
XM_005248282.3:c.7441C>G (NIPBL)	XP_005248339.2:p.Gln2481Glu
XM_006714467.2:c.8038C>G (NIPBL)	XP_006714530.1:p.Gln2680Glu
XM_006714468.1:c.7987C>G (NIPBL)	XP_006714531.1:p.Gln2663Glu
XM_011514014.1:c.7804C>G (NIPBL)	XP_011512316.1:p.Gln2602Glu
XM_005248280.3:c.*129C>G (NIPBL)	XP_005248337.1:n.*129C>G
XM_005248282.5:c.7525C>G (NIPBL)	XP_005248339.3:p.Gln2509Glu
XM_006714468.2:c.7987C>G (NIPBL)	XP_006714531.1:p.Gln2663Glu
XM_017009329.1:c.*129C>G (NIPBL)	XP_016864818.1:n.*129C>G
XM_017009330.2:c.6568C>G (NIPBL)	XP_016864819.1:p.Gln2190Glu
XM_017009331.1:c.6559C>G (NIPBL)	XP_016864820.1:p.Gln2187Glu
XR_925644.2:n.12020G>C (CPLANE1)
NM_133433.4:c.8185C>G (NIPBL) MANE Select	NP_597677.2:p.Gln2729Glu
NM_015384.5:c.*639C>G (NIPBL)	NP_056199.2:n.*639C>G