Canonical Allele Identifier: CA380325507

Gene: RAPSN

Linked Data

• gnomAD v4: 11-47438004-G-T
• MyVariant Identifiers: chr11:g.47459555G>T (hg19) ; chr11:g.47438004G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47438004G>T , CM000673.2:g.47438004G>T	GRCh38
NC_000011.9:g.47459555G>T , CM000673.1:g.47459555G>T	GRCh37
NC_000011.8:g.47416131G>T	NCBI36
NG_008312.1:g.16176C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298854.7:c.1210C>A MANE Select	ENSP00000298854.2:p.Arg404Ser
ENST00000298854.6:c.1210C>A	ENSP00000298854.2:p.Arg404Ser
ENST00000352508.7:c.1033C>A	ENSP00000298853.3:p.Arg345Ser
ENST00000524487.5:c.1051C>A	ENSP00000435551.2:p.Arg351Ser
ENST00000528356.1:n.165C>A
NM_005055.4:c.1210C>A	NP_005046.2:p.Arg404Ser
NM_032645.4:c.1033C>A	NP_116034.2:p.Arg345Ser
XM_005253042.2:c.1156C>A	XP_005253099.1:p.Arg386Ser
XM_005253043.2:c.1087C>A	XP_005253100.1:p.Arg363Ser
XM_011520252.1:c.1295C>A	XP_011518554.1:p.Pro432Gln
XM_011520253.1:c.1234C>A	XP_011518555.1:p.Arg412Ser
XM_005253042.3:c.1156C>A	XP_005253099.1:p.Arg386Ser
XM_005253043.3:c.1087C>A	XP_005253100.1:p.Arg363Ser
NM_005055.5:c.1210C>A MANE Select	NP_005046.2:p.Arg404Ser
NM_032645.5:c.1033C>A	NP_116034.2:p.Arg345Ser