Canonical Allele Identifier: CA347927

Gene: NUP107

Linked Data

• ClinVar Variation Id: 219129
• ClinVar RCV Id: RCV000203541
• dbSNP Id: rs864321688
• MyVariant Identifiers: chr12:g.69107589G>A (hg19) ; chr12:g.68713809G>A (hg38)
• PubMed: PMID:26411495

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.68713809G>A , CM000674.2:g.68713809G>A	GRCh38
NC_000012.11:g.69107589G>A , CM000674.1:g.69107589G>A	GRCh37
NC_000012.10:g.67393856G>A	NCBI36
NG_046600.2:g.31859G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229179.9:c.969+1G>A MANE Select	ENSP00000229179.4:n.969+1G>A
ENST00000229179.8:c.969+1G>A	ENSP00000229179.4:n.969+1G>A
ENST00000378905.6:c.516+1G>A	ENSP00000368185.2:n.516+1G>A
ENST00000535718.5:c.*512+1G>A	ENSP00000445567.1:n.*512+1G>A
ENST00000537662.1:n.256G>A
ENST00000539906.5:c.882+1G>A	ENSP00000441448.1:n.882+1G>A
NM_020401.2:c.969+1G>A	NP_065134.1:n.969+1G>A
XM_005269037.2:c.969+1G>A	XP_005269094.1:n.969+1G>A
XM_011538576.1:c.882+1G>A	XP_011536878.1:n.882+1G>A
NM_001330192.1:c.882+1G>A	NP_001317121.1:n.882+1G>A
NM_020401.3:c.969+1G>A	NP_065134.1:n.969+1G>A
XM_005269037.4:c.969+1G>A	XP_005269094.1:n.969+1G>A
NM_020401.4:c.969+1G>A MANE Select	NP_065134.1:n.969+1G>A
NM_001330192.2:c.882+1G>A	NP_001317121.1:n.882+1G>A