Canonical Allele Identifier: CA380325340

Gene: RAPSN

Linked Data

• MyVariant Identifiers: chr11:g.47459528A>G (hg19) ; chr11:g.47437977A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47437977A>G , CM000673.2:g.47437977A>G	GRCh38
NC_000011.9:g.47459528A>G , CM000673.1:g.47459528A>G	GRCh37
NC_000011.8:g.47416104A>G	NCBI36
NG_008312.1:g.16203T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298854.7:c.1237T>C MANE Select	ENSP00000298854.2:p.Ter413Arg
ENST00000298854.6:c.1237T>C	ENSP00000298854.2:p.Ter413Arg
ENST00000352508.7:c.1060T>C	ENSP00000298853.3:p.Ter354Arg
ENST00000524487.5:c.1078T>C	ENSP00000435551.2:p.Ter360Arg
ENST00000528356.1:n.192T>C
NM_005055.4:c.1237T>C	NP_005046.2:p.Ter413Arg
NM_032645.4:c.1060T>C	NP_116034.2:p.Ter354Arg
XM_005253042.2:c.1183T>C	XP_005253099.1:p.Ter395Arg
XM_005253043.2:c.1114T>C	XP_005253100.1:p.Ter372Arg
XM_011520252.1:c.1322T>C	XP_011518554.1:p.Met441Thr
XM_011520253.1:c.1261T>C	XP_011518555.1:p.Ter421Arg
XM_005253042.3:c.1183T>C	XP_005253099.1:p.Ter395Arg
XM_005253043.3:c.1114T>C	XP_005253100.1:p.Ter372Arg
NM_005055.5:c.1237T>C MANE Select	NP_005046.2:p.Ter413Arg
NM_032645.5:c.1060T>C	NP_116034.2:p.Ter354Arg