Canonical Allele Identifier: CA474218150

Gene: RAPSN

Linked Data

• ClinVar Variation Id: 796377
• ClinVar RCV Id: RCV001500224
• dbSNP Id: rs1595898465
• gnomAD v4: 11-47441677-G-A
• MyVariant Identifiers: chr11:g.47463229G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47441677G>A , CM000673.2:g.47441677G>A	GRCh38
NC_000011.9:g.47463229G>A , CM000673.1:g.47463229G>A	GRCh37
NC_000011.8:g.47419805G>A	NCBI36
NG_008312.1:g.12502C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000298854.7:c.846C>T MANE Select	ENSP00000298854.2:p.Arg282=
ENST00000298854.6:c.846C>T	ENSP00000298854.2:p.Arg282=
ENST00000352508.7:c.789+146C>T	ENSP00000298853.3:n.789+146C>T
ENST00000524487.5:c.687C>T	ENSP00000435551.2:p.Arg229=
ENST00000528356.1:n.55C>T
ENST00000529341.1:c.789+146C>T	ENSP00000431732.1:n.789+146C>T
NM_005055.4:c.846C>T	NP_005046.2:p.Arg282=
NM_032645.4:c.789+146C>T	NP_116034.2:n.789+146C>T
XM_005253042.2:c.846C>T	XP_005253099.1:p.Arg282=
XM_005253043.2:c.789+146C>T	XP_005253100.1:n.789+146C>T
XM_011520252.1:c.846C>T	XP_011518554.1:p.Arg282=
XM_011520253.1:c.846C>T	XP_011518555.1:p.Arg282=
XM_005253042.3:c.846C>T	XP_005253099.1:p.Arg282=
XM_005253043.3:c.789+146C>T	XP_005253100.1:n.789+146C>T
NM_005055.5:c.846C>T MANE Select	NP_005046.2:p.Arg282=
NM_032645.5:c.789+146C>T	NP_116034.2:n.789+146C>T