Canonical Allele Identifier: CA474217213

Gene: RAPSN

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47438002G>A , CM000673.2:g.47438002G>A	GRCh38
NC_000011.9:g.47459553G>A , CM000673.1:g.47459553G>A	GRCh37
NC_000011.8:g.47416129G>A	NCBI36
NG_008312.1:g.16178C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005055.5:c.1212C>T MANE Select	NP_005046.2:p.Arg404=
ENST00000298854.7:c.1212C>T MANE Select	ENSP00000298854.2:p.Arg404=
NM_005055.4:c.1212C>T	NP_005046.2:p.Arg404=
NM_032645.4:c.1035C>T	NP_116034.2:p.Arg345=
NM_032645.5:c.1035C>T	NP_116034.2:p.Arg345=
ENST00000298854.6:c.1212C>T	ENSP00000298854.2:p.Arg404=
ENST00000352508.7:c.1035C>T	ENSP00000298853.3:p.Arg345=
ENST00000524487.5:c.1053C>T	ENSP00000435551.2:p.Arg351=
ENST00000528356.1:n.167C>T
XM_005253042.2:c.1158C>T	XP_005253099.1:p.Arg386=
XM_005253042.3:c.1158C>T	XP_005253099.1:p.Arg386=
XM_005253043.2:c.1089C>T	XP_005253100.1:p.Arg363=
XM_005253043.3:c.1089C>T	XP_005253100.1:p.Arg363=
XM_011520252.1:c.1297C>T	XP_011518554.1:p.Leu433Phe
XM_011520253.1:c.1236C>T	XP_011518555.1:p.Arg412=