Canonical Allele Identifier: CA380329470

Gene: RAPSN

Linked Data

• ClinVar Variation Id: 1076821
• ClinVar RCV Id: RCV001390845
• dbSNP Id: rs1262674788
• gnomAD v4: 11-47441685-C-A
• MyVariant Identifiers: chr11:g.47463237C>A (hg19) ; chr11:g.47441685C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000298854.7:c.838G>T MANE Select	ENSP00000298854.2:p.Gly280Ter
ENST00000298854.6:c.838G>T	ENSP00000298854.2:p.Gly280Ter
ENST00000352508.7:c.789+138G>T	ENSP00000298853.3:n.789+138G>T
ENST00000524487.5:c.679G>T	ENSP00000435551.2:p.Gly227Ter
ENST00000528356.1:n.47G>T
ENST00000529341.1:c.789+138G>T	ENSP00000431732.1:n.789+138G>T
NM_005055.4:c.838G>T	NP_005046.2:p.Gly280Ter
NM_032645.4:c.789+138G>T	NP_116034.2:n.789+138G>T
XM_005253042.2:c.838G>T	XP_005253099.1:p.Gly280Ter
XM_005253043.2:c.789+138G>T	XP_005253100.1:n.789+138G>T
XM_011520252.1:c.838G>T	XP_011518554.1:p.Gly280Ter
XM_011520253.1:c.838G>T	XP_011518555.1:p.Gly280Ter
XM_005253042.3:c.838G>T	XP_005253099.1:p.Gly280Ter
XM_005253043.3:c.789+138G>T	XP_005253100.1:n.789+138G>T
NM_005055.5:c.838G>T MANE Select	NP_005046.2:p.Gly280Ter
NM_032645.5:c.789+138G>T	NP_116034.2:n.789+138G>T