Canonical Allele Identifier: CA380325425

Gene: RAPSN

Linked Data

• dbSNP Id: rs1332749257
• gnomAD v2: 11-47459545-A-G
• gnomAD v3: 11-47437994-A-G
• gnomAD v4: 11-47437994-A-G
• MyVariant Identifiers: chr11:g.47459545A>G (hg19) ; chr11:g.47437994A>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298854.7:c.1220T>C MANE Select	ENSP00000298854.2:p.Met407Thr
ENST00000298854.6:c.1220T>C	ENSP00000298854.2:p.Met407Thr
ENST00000352508.7:c.1043T>C	ENSP00000298853.3:p.Met348Thr
ENST00000524487.5:c.1061T>C	ENSP00000435551.2:p.Met354Thr
ENST00000528356.1:n.175T>C
NM_005055.4:c.1220T>C	NP_005046.2:p.Met407Thr
NM_032645.4:c.1043T>C	NP_116034.2:p.Met348Thr
XM_005253042.2:c.1166T>C	XP_005253099.1:p.Met389Thr
XM_005253043.2:c.1097T>C	XP_005253100.1:p.Met366Thr
XM_011520252.1:c.1305T>C	XP_011518554.1:p.His435=
XM_011520253.1:c.1244T>C	XP_011518555.1:p.Met415Thr
XM_005253042.3:c.1166T>C	XP_005253099.1:p.Met389Thr
XM_005253043.3:c.1097T>C	XP_005253100.1:p.Met366Thr
NM_005055.5:c.1220T>C MANE Select	NP_005046.2:p.Met407Thr
NM_032645.5:c.1043T>C	NP_116034.2:p.Met348Thr