Canonical Allele Identifier: CA221713977

Gene: RAPSN

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47438730A>C , CM000673.2:g.47438730A>C	GRCh38
NC_000011.9:g.47460281A>C , CM000673.1:g.47460281A>C	GRCh37
NC_000011.8:g.47416857A>C	NCBI36
NG_008312.1:g.15450T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_005055.5:c.1166+2T>G MANE Select	NP_005046.2:n.1166+2T>G
ENST00000298854.7:c.1166+2T>G MANE Select	ENSP00000298854.2:n.1166+2T>G
NM_005055.4:c.1166+2T>G	NP_005046.2:n.1166+2T>G
NM_032645.4:c.989+2T>G	NP_116034.2:n.989+2T>G
NM_032645.5:c.989+2T>G	NP_116034.2:n.989+2T>G
ENST00000298854.6:c.1166+2T>G	ENSP00000298854.2:n.1166+2T>G
ENST00000352508.7:c.989+2T>G	ENSP00000298853.3:n.989+2T>G
ENST00000524487.5:c.1007+2T>G	ENSP00000435551.2:n.1007+2T>G
ENST00000528356.1:n.122-683T>G
ENST00000529341.1:c.991T>G	ENSP00000431732.1:p.Trp331Gly
XM_005253042.2:c.1112+2T>G	XP_005253099.1:n.1112+2T>G
XM_005253042.3:c.1112+2T>G	XP_005253099.1:n.1112+2T>G
XM_005253043.2:c.1043+2T>G	XP_005253100.1:n.1043+2T>G
XM_005253043.3:c.1043+2T>G	XP_005253100.1:n.1043+2T>G
XM_011520252.1:c.1251+2T>G	XP_011518554.1:n.1251+2T>G
XM_011520253.1:c.1190+2T>G	XP_011518555.1:n.1190+2T>G