Canonical Allele Identifier: CA380327642

Gene: RAPSN

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47438833G>T , CM000673.2:g.47438833G>T	GRCh38
NC_000011.9:g.47460384G>T , CM000673.1:g.47460384G>T	GRCh37
NC_000011.8:g.47416960G>T	NCBI36
NG_008312.1:g.15347C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005055.5:c.1065C>A MANE Select	NP_005046.2:p.Cys355Ter
ENST00000298854.7:c.1065C>A MANE Select	ENSP00000298854.2:p.Cys355Ter
NM_005055.4:c.1065C>A	NP_005046.2:p.Cys355Ter
NM_032645.4:c.888C>A	NP_116034.2:p.Cys296Ter
NM_032645.5:c.888C>A	NP_116034.2:p.Cys296Ter
ENST00000298854.6:c.1065C>A	ENSP00000298854.2:p.Cys355Ter
ENST00000352508.7:c.888C>A	ENSP00000298853.3:p.Cys296Ter
ENST00000524487.5:c.906C>A	ENSP00000435551.2:p.Cys302Ter
ENST00000528356.1:n.122-786C>A
ENST00000529341.1:c.888C>A	ENSP00000431732.1:p.Cys296Ter
XM_005253042.2:c.1011C>A	XP_005253099.1:p.Cys337Ter
XM_005253042.3:c.1011C>A	XP_005253099.1:p.Cys337Ter
XM_005253043.2:c.942C>A	XP_005253100.1:p.Cys314Ter
XM_005253043.3:c.942C>A	XP_005253100.1:p.Cys314Ter
XM_011520252.1:c.1150C>A	XP_011518554.1:p.Arg384Ser
XM_011520253.1:c.1089C>A	XP_011518555.1:p.Cys363Ter