Canonical Allele Identifier: CA5976454

Gene: RAPSN

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47438024C>T , CM000673.2:g.47438024C>T	GRCh38
NC_000011.9:g.47459575C>T , CM000673.1:g.47459575C>T	GRCh37
NC_000011.8:g.47416151C>T	NCBI36
NG_008312.1:g.16156G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005055.5:c.1190G>A MANE Select	NP_005046.2:p.Arg397Gln
ENST00000298854.7:c.1190G>A MANE Select	ENSP00000298854.2:p.Arg397Gln
NM_005055.4:c.1190G>A	NP_005046.2:p.Arg397Gln
NM_032645.4:c.1013G>A	NP_116034.2:p.Arg338Gln
NM_032645.5:c.1013G>A	NP_116034.2:p.Arg338Gln
ENST00000298854.6:c.1190G>A	ENSP00000298854.2:p.Arg397Gln
ENST00000352508.7:c.1013G>A	ENSP00000298853.3:p.Arg338Gln
ENST00000524487.5:c.1031G>A	ENSP00000435551.2:p.Arg344Gln
ENST00000528356.1:n.145G>A
XM_005253042.2:c.1136G>A	XP_005253099.1:p.Arg379Gln
XM_005253042.3:c.1136G>A	XP_005253099.1:p.Arg379Gln
XM_005253043.2:c.1067G>A	XP_005253100.1:p.Arg356Gln
XM_005253043.3:c.1067G>A	XP_005253100.1:p.Arg356Gln
XM_011520252.1:c.1275G>A	XP_011518554.1:p.Pro425=
XM_011520253.1:c.1214G>A	XP_011518555.1:p.Arg405Gln