Canonical Allele Identifier: CA1969387596

Gene: RAPSN

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47441698G= , CM000673.2:g.47441698G=	GRCh38
NC_000011.9:g.47463250G= , CM000673.1:g.47463250G=	GRCh37
NC_000011.8:g.47419826G=	NCBI36
NG_008312.1:g.12481C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298854.7:c.825C= MANE Select	ENSP00000298854.2:p.Ile275=
ENST00000298854.6:c.825C=	ENSP00000298854.2:p.Ile275=
ENST00000352508.7:c.789+125C=	ENSP00000298853.3:n.789+125C=
ENST00000524487.5:c.666C=	ENSP00000435551.2:p.Ile222=
ENST00000528356.1:n.34C=
ENST00000529341.1:c.789+125C=	ENSP00000431732.1:n.789+125C=
NM_005055.4:c.825C=	NP_005046.2:p.Ile275=
NM_032645.4:c.789+125C=	NP_116034.2:n.789+125C=
XM_005253042.2:c.825C=	XP_005253099.1:p.Ile275=
XM_005253043.2:c.789+125C=	XP_005253100.1:n.789+125C=
XM_011520252.1:c.825C=	XP_011518554.1:p.Ile275=
XM_011520253.1:c.825C=	XP_011518555.1:p.Ile275=
XM_005253042.3:c.825C=	XP_005253099.1:p.Ile275=
XM_005253043.3:c.789+125C=	XP_005253100.1:n.789+125C=
NM_005055.5:c.825C= MANE Select	NP_005046.2:p.Ile275=
NM_032645.5:c.789+125C=	NP_116034.2:n.789+125C=