Canonical Allele Identifier: CA380325511

Gene: RAPSN

Linked Data

• MyVariant Identifiers: chr11:g.47459557C>G (hg19) ; chr11:g.47438006C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47438006C>G , CM000673.2:g.47438006C>G	GRCh38
NC_000011.9:g.47459557C>G , CM000673.1:g.47459557C>G	GRCh37
NC_000011.8:g.47416133C>G	NCBI36
NG_008312.1:g.16174G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298854.7:c.1208G>C MANE Select	ENSP00000298854.2:p.Arg403Pro
ENST00000298854.6:c.1208G>C	ENSP00000298854.2:p.Arg403Pro
ENST00000352508.7:c.1031G>C	ENSP00000298853.3:p.Arg344Pro
ENST00000524487.5:c.1049G>C	ENSP00000435551.2:p.Arg350Pro
ENST00000528356.1:n.163G>C
NM_005055.4:c.1208G>C	NP_005046.2:p.Arg403Pro
NM_032645.4:c.1031G>C	NP_116034.2:p.Arg344Pro
XM_005253042.2:c.1154G>C	XP_005253099.1:p.Arg385Pro
XM_005253043.2:c.1085G>C	XP_005253100.1:p.Arg362Pro
XM_011520252.1:c.1293G>C	XP_011518554.1:p.Pro431=
XM_011520253.1:c.1232G>C	XP_011518555.1:p.Arg411Pro
XM_005253042.3:c.1154G>C	XP_005253099.1:p.Arg385Pro
XM_005253043.3:c.1085G>C	XP_005253100.1:p.Arg362Pro
NM_005055.5:c.1208G>C MANE Select	NP_005046.2:p.Arg403Pro
NM_032645.5:c.1031G>C	NP_116034.2:p.Arg344Pro