Canonical Allele Identifier: CA199511

Gene: RAPSN

Linked Data

• ClinVar Variation Id: 8046
• ClinVar RCV Id: RCV000008512 ; RCV000170316 ; RCV000235028 ; RCV000224062 ; RCV000286918 ; RCV000414829 ; RCV000477955 ; RCV002512909 ; RCV003466838
• dbSNP Id: rs104894299
• ExAC: 11:47469631 G / T
• gnomAD v2: 11-47469631-G-T
• gnomAD v3: 11-47448079-G-T
• gnomAD v4: 11-47448079-G-T
• COSMIC: COSM3765567
• MyVariant Identifiers: chr11:g.47469631G>T (hg19) ; chr11:g.47448079G>T (hg38)
• PubMed: PMID:11791205 ; PMID:12651869 ; PMID:12730725 ; PMID:12796535 ; PMID:12807980 ; PMID:12929188 ; PMID:14504330 ; PMID:14659409 ; PMID:14729848 ; PMID:15036330 ; PMID:15286164 ; PMID:15328566 ; PMID:15482960 ; PMID:16945936 ; PMID:17190963 ; PMID:19620612 ; PMID:20157724 ; PMID:20301347 ; PMID:21228398 ; PMID:21305573 ; PMID:24319099 ; PMID:25194721

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47448079G>T , CM000673.2:g.47448079G>T	GRCh38
NC_000011.9:g.47469631G>T , CM000673.1:g.47469631G>T	GRCh37
NC_000011.8:g.47426207G>T	NCBI36
NG_008312.1:g.6100C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298854.7:c.264C>A MANE Select	ENSP00000298854.2:p.Asn88Lys
ENST00000298854.6:c.264C>A	ENSP00000298854.2:p.Asn88Lys
ENST00000352508.7:c.264C>A	ENSP00000298853.3:p.Asn88Lys
ENST00000524487.5:c.264C>A	ENSP00000435551.2:p.Asn88Lys
ENST00000529341.1:c.264C>A	ENSP00000431732.1:p.Asn88Lys
NM_005055.4:c.264C>A	NP_005046.2:p.Asn88Lys
NM_032645.4:c.264C>A	NP_116034.2:p.Asn88Lys
XM_005253042.2:c.264C>A	XP_005253099.1:p.Asn88Lys
XM_005253043.2:c.264C>A	XP_005253100.1:p.Asn88Lys
XM_011520252.1:c.264C>A	XP_011518554.1:p.Asn88Lys
XM_011520253.1:c.264C>A	XP_011518555.1:p.Asn88Lys
XM_005253042.3:c.264C>A	XP_005253099.1:p.Asn88Lys
XM_005253043.3:c.264C>A	XP_005253100.1:p.Asn88Lys
NM_005055.5:c.264C>A MANE Select	NP_005046.2:p.Asn88Lys
NM_032645.5:c.264C>A	NP_116034.2:p.Asn88Lys