Canonical Allele Identifier: CA380327912

Gene: RAPSN

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47438925G>A , CM000673.2:g.47438925G>A	GRCh38
NC_000011.9:g.47460476G>A , CM000673.1:g.47460476G>A	GRCh37
NC_000011.8:g.47417052G>A	NCBI36
NG_008312.1:g.15255C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005055.5:c.973C>T MANE Select	NP_005046.2:p.Gln325Ter
ENST00000298854.7:c.973C>T MANE Select	ENSP00000298854.2:p.Gln325Ter
NM_005055.4:c.973C>T	NP_005046.2:p.Gln325Ter
NM_032645.4:c.796C>T	NP_116034.2:p.Gln266Ter
NM_032645.5:c.796C>T	NP_116034.2:p.Gln266Ter
ENST00000298854.6:c.973C>T	ENSP00000298854.2:p.Gln325Ter
ENST00000352508.7:c.796C>T	ENSP00000298853.3:p.Gln266Ter
ENST00000524487.5:c.814C>T	ENSP00000435551.2:p.Gln272Ter
ENST00000528356.1:n.122-878C>T
ENST00000529341.1:c.796C>T	ENSP00000431732.1:p.Gln266Ter
XM_005253042.2:c.919C>T	XP_005253099.1:p.Gln307Ter
XM_005253042.3:c.919C>T	XP_005253099.1:p.Gln307Ter
XM_005253043.2:c.850C>T	XP_005253100.1:p.Gln284Ter
XM_005253043.3:c.850C>T	XP_005253100.1:p.Gln284Ter
XM_011520252.1:c.1058C>T	XP_011518554.1:p.Pro353Leu
XM_011520253.1:c.997C>T	XP_011518555.1:p.Gln333Ter