Canonical Allele Identifier: CA474217218

Gene: RAPSN

Linked Data

• MyVariant Identifiers: chr11:g.47459556G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47438005G>T , CM000673.2:g.47438005G>T	GRCh38
NC_000011.9:g.47459556G>T , CM000673.1:g.47459556G>T	GRCh37
NC_000011.8:g.47416132G>T	NCBI36
NG_008312.1:g.16175C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298854.7:c.1209C>A MANE Select	ENSP00000298854.2:p.Arg403=
ENST00000298854.6:c.1209C>A	ENSP00000298854.2:p.Arg403=
ENST00000352508.7:c.1032C>A	ENSP00000298853.3:p.Arg344=
ENST00000524487.5:c.1050C>A	ENSP00000435551.2:p.Arg350=
ENST00000528356.1:n.164C>A
NM_005055.4:c.1209C>A	NP_005046.2:p.Arg403=
NM_032645.4:c.1032C>A	NP_116034.2:p.Arg344=
XM_005253042.2:c.1155C>A	XP_005253099.1:p.Arg385=
XM_005253043.2:c.1086C>A	XP_005253100.1:p.Arg362=
XM_011520252.1:c.1294C>A	XP_011518554.1:p.Pro432Thr
XM_011520253.1:c.1233C>A	XP_011518555.1:p.Arg411=
XM_005253042.3:c.1155C>A	XP_005253099.1:p.Arg385=
XM_005253043.3:c.1086C>A	XP_005253100.1:p.Arg362=
NM_005055.5:c.1209C>A MANE Select	NP_005046.2:p.Arg403=
NM_032645.5:c.1032C>A	NP_116034.2:p.Arg344=