Canonical Allele Identifier: CA5976605

Gene: RAPSN

Linked Data

• ClinVar Variation Id: 1934565
• ClinVar RCV Id: RCV002632039
• dbSNP Id: rs751845474
• ExAC: 11:47463231 G / A
• gnomAD v2: 11-47463231-G-A
• gnomAD v3: 11-47441679-G-A
• gnomAD v4: 11-47441679-G-A
• COSMIC: COSM1223168
• MyVariant Identifiers: chr11:g.47463231G>A (hg19) ; chr11:g.47441679G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47441679G>A , CM000673.2:g.47441679G>A	GRCh38
NC_000011.9:g.47463231G>A , CM000673.1:g.47463231G>A	GRCh37
NC_000011.8:g.47419807G>A	NCBI36
NG_008312.1:g.12500C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000298854.7:c.844C>T MANE Select	ENSP00000298854.2:p.Arg282Cys
ENST00000298854.6:c.844C>T	ENSP00000298854.2:p.Arg282Cys
ENST00000352508.7:c.789+144C>T	ENSP00000298853.3:n.789+144C>T
ENST00000524487.5:c.685C>T	ENSP00000435551.2:p.Arg229Cys
ENST00000528356.1:n.53C>T
ENST00000529341.1:c.789+144C>T	ENSP00000431732.1:n.789+144C>T
NM_005055.4:c.844C>T	NP_005046.2:p.Arg282Cys
NM_032645.4:c.789+144C>T	NP_116034.2:n.789+144C>T
XM_005253042.2:c.844C>T	XP_005253099.1:p.Arg282Cys
XM_005253043.2:c.789+144C>T	XP_005253100.1:n.789+144C>T
XM_011520252.1:c.844C>T	XP_011518554.1:p.Arg282Cys
XM_011520253.1:c.844C>T	XP_011518555.1:p.Arg282Cys
XM_005253042.3:c.844C>T	XP_005253099.1:p.Arg282Cys
XM_005253043.3:c.789+144C>T	XP_005253100.1:n.789+144C>T
NM_005055.5:c.844C>T MANE Select	NP_005046.2:p.Arg282Cys
NM_032645.5:c.789+144C>T	NP_116034.2:n.789+144C>T