Canonical Allele Identifier: CA380325621

Gene: RAPSN

Linked Data

• MyVariant Identifiers: chr11:g.47459570A>T (hg19) ; chr11:g.47438019A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47438019A>T , CM000673.2:g.47438019A>T	GRCh38
NC_000011.9:g.47459570A>T , CM000673.1:g.47459570A>T	GRCh37
NC_000011.8:g.47416146A>T	NCBI36
NG_008312.1:g.16161T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298854.7:c.1195T>A MANE Select	ENSP00000298854.2:p.Cys399Ser
ENST00000298854.6:c.1195T>A	ENSP00000298854.2:p.Cys399Ser
ENST00000352508.7:c.1018T>A	ENSP00000298853.3:p.Cys340Ser
ENST00000524487.5:c.1036T>A	ENSP00000435551.2:p.Cys346Ser
ENST00000528356.1:n.150T>A
NM_005055.4:c.1195T>A	NP_005046.2:p.Cys399Ser
NM_032645.4:c.1018T>A	NP_116034.2:p.Cys340Ser
XM_005253042.2:c.1141T>A	XP_005253099.1:p.Cys381Ser
XM_005253043.2:c.1072T>A	XP_005253100.1:p.Cys358Ser
XM_011520252.1:c.1280T>A	XP_011518554.1:p.Leu427Gln
XM_011520253.1:c.1219T>A	XP_011518555.1:p.Cys407Ser
XM_005253042.3:c.1141T>A	XP_005253099.1:p.Cys381Ser
XM_005253043.3:c.1072T>A	XP_005253100.1:p.Cys358Ser
NM_005055.5:c.1195T>A MANE Select	NP_005046.2:p.Cys399Ser
NM_032645.5:c.1018T>A	NP_116034.2:p.Cys340Ser