Canonical Allele Identifier: CA5976532

Gene: RAPSN

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47438901C>A , CM000673.2:g.47438901C>A	GRCh38
NC_000011.9:g.47460452C>A , CM000673.1:g.47460452C>A	GRCh37
NC_000011.8:g.47417028C>A	NCBI36
NG_008312.1:g.15279G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005055.5:c.997G>T MANE Select	NP_005046.2:p.Glu333Ter
ENST00000298854.7:c.997G>T MANE Select	ENSP00000298854.2:p.Glu333Ter
NM_005055.4:c.997G>T	NP_005046.2:p.Glu333Ter
NM_032645.4:c.820G>T	NP_116034.2:p.Glu274Ter
NM_032645.5:c.820G>T	NP_116034.2:p.Glu274Ter
ENST00000298854.6:c.997G>T	ENSP00000298854.2:p.Glu333Ter
ENST00000352508.7:c.820G>T	ENSP00000298853.3:p.Glu274Ter
ENST00000524487.5:c.838G>T	ENSP00000435551.2:p.Glu280Ter
ENST00000528356.1:n.122-854G>T
ENST00000529341.1:c.820G>T	ENSP00000431732.1:p.Glu274Ter
XM_005253042.2:c.943G>T	XP_005253099.1:p.Glu315Ter
XM_005253042.3:c.943G>T	XP_005253099.1:p.Glu315Ter
XM_005253043.2:c.874G>T	XP_005253100.1:p.Glu292Ter
XM_005253043.3:c.874G>T	XP_005253100.1:p.Glu292Ter
XM_011520252.1:c.1082G>T	XP_011518554.1:p.Arg361Leu
XM_011520253.1:c.1021G>T	XP_011518555.1:p.Glu341Ter