Canonical Allele Identifier: CA380325403

Gene: RAPSN

Linked Data

• MyVariant Identifiers: chr11:g.47459542T>C (hg19) ; chr11:g.47437991T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47437991T>C , CM000673.2:g.47437991T>C	GRCh38
NC_000011.9:g.47459542T>C , CM000673.1:g.47459542T>C	GRCh37
NC_000011.8:g.47416118T>C	NCBI36
NG_008312.1:g.16189A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298854.7:c.1223A>G MANE Select	ENSP00000298854.2:p.Lys408Arg
ENST00000298854.6:c.1223A>G	ENSP00000298854.2:p.Lys408Arg
ENST00000352508.7:c.1046A>G	ENSP00000298853.3:p.Lys349Arg
ENST00000524487.5:c.1064A>G	ENSP00000435551.2:p.Lys355Arg
ENST00000528356.1:n.178A>G
NM_005055.4:c.1223A>G	NP_005046.2:p.Lys408Arg
NM_032645.4:c.1046A>G	NP_116034.2:p.Lys349Arg
XM_005253042.2:c.1169A>G	XP_005253099.1:p.Lys390Arg
XM_005253043.2:c.1100A>G	XP_005253100.1:p.Lys367Arg
XM_011520252.1:c.1308A>G	XP_011518554.1:p.Glu436=
XM_011520253.1:c.1247A>G	XP_011518555.1:p.Lys416Arg
XM_005253042.3:c.1169A>G	XP_005253099.1:p.Lys390Arg
XM_005253043.3:c.1100A>G	XP_005253100.1:p.Lys367Arg
NM_005055.5:c.1223A>G MANE Select	NP_005046.2:p.Lys408Arg
NM_032645.5:c.1046A>G	NP_116034.2:p.Lys349Arg