Canonical Allele Identifier: CA380329479

Gene: RAPSN

Linked Data

• ClinVar Variation Id: 641067
• ClinVar RCV Id: RCV000794222 ; RCV001825551
• dbSNP Id: rs1262674788
• gnomAD v2: 11-47463237-C-T
• gnomAD v4: 11-47441685-C-T
• MyVariant Identifiers: chr11:g.47463237C>T (hg19) ; chr11:g.47441685C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47441685C>T , CM000673.2:g.47441685C>T	GRCh38
NC_000011.9:g.47463237C>T , CM000673.1:g.47463237C>T	GRCh37
NC_000011.8:g.47419813C>T	NCBI36
NG_008312.1:g.12494G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000298854.7:c.838G>A MANE Select	ENSP00000298854.2:p.Gly280Arg
ENST00000298854.6:c.838G>A	ENSP00000298854.2:p.Gly280Arg
ENST00000352508.7:c.789+138G>A	ENSP00000298853.3:n.789+138G>A
ENST00000524487.5:c.679G>A	ENSP00000435551.2:p.Gly227Arg
ENST00000528356.1:n.47G>A
ENST00000529341.1:c.789+138G>A	ENSP00000431732.1:n.789+138G>A
NM_005055.4:c.838G>A	NP_005046.2:p.Gly280Arg
NM_032645.4:c.789+138G>A	NP_116034.2:n.789+138G>A
XM_005253042.2:c.838G>A	XP_005253099.1:p.Gly280Arg
XM_005253043.2:c.789+138G>A	XP_005253100.1:n.789+138G>A
XM_011520252.1:c.838G>A	XP_011518554.1:p.Gly280Arg
XM_011520253.1:c.838G>A	XP_011518555.1:p.Gly280Arg
XM_005253042.3:c.838G>A	XP_005253099.1:p.Gly280Arg
XM_005253043.3:c.789+138G>A	XP_005253100.1:n.789+138G>A
NM_005055.5:c.838G>A MANE Select	NP_005046.2:p.Gly280Arg
NM_032645.5:c.789+138G>A	NP_116034.2:n.789+138G>A