Canonical Allele Identifier: CA380325423

Gene: RAPSN

Linked Data

• dbSNP Id: rs1332749257
• gnomAD v4: 11-47437994-A-C
• MyVariant Identifiers: chr11:g.47459545A>C (hg19) ; chr11:g.47437994A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47437994A>C , CM000673.2:g.47437994A>C	GRCh38
NC_000011.9:g.47459545A>C , CM000673.1:g.47459545A>C	GRCh37
NC_000011.8:g.47416121A>C	NCBI36
NG_008312.1:g.16186T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298854.7:c.1220T>G MANE Select	ENSP00000298854.2:p.Met407Arg
ENST00000298854.6:c.1220T>G	ENSP00000298854.2:p.Met407Arg
ENST00000352508.7:c.1043T>G	ENSP00000298853.3:p.Met348Arg
ENST00000524487.5:c.1061T>G	ENSP00000435551.2:p.Met354Arg
ENST00000528356.1:n.175T>G
NM_005055.4:c.1220T>G	NP_005046.2:p.Met407Arg
NM_032645.4:c.1043T>G	NP_116034.2:p.Met348Arg
XM_005253042.2:c.1166T>G	XP_005253099.1:p.Met389Arg
XM_005253043.2:c.1097T>G	XP_005253100.1:p.Met366Arg
XM_011520252.1:c.1305T>G	XP_011518554.1:p.His435Gln
XM_011520253.1:c.1244T>G	XP_011518555.1:p.Met415Arg
XM_005253042.3:c.1166T>G	XP_005253099.1:p.Met389Arg
XM_005253043.3:c.1097T>G	XP_005253100.1:p.Met366Arg
NM_005055.5:c.1220T>G MANE Select	NP_005046.2:p.Met407Arg
NM_032645.5:c.1043T>G	NP_116034.2:p.Met348Arg