Canonical Allele Identifier: CA380325379

Gene: RAPSN

Linked Data

• gnomAD v4: 11-47437986-C-A
• MyVariant Identifiers: chr11:g.47459537C>A (hg19) ; chr11:g.47437986C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47437986C>A , CM000673.2:g.47437986C>A	GRCh38
NC_000011.9:g.47459537C>A , CM000673.1:g.47459537C>A	GRCh37
NC_000011.8:g.47416113C>A	NCBI36
NG_008312.1:g.16194G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298854.7:c.1228G>T MANE Select	ENSP00000298854.2:p.Gly410Cys
ENST00000298854.6:c.1228G>T	ENSP00000298854.2:p.Gly410Cys
ENST00000352508.7:c.1051G>T	ENSP00000298853.3:p.Gly351Cys
ENST00000524487.5:c.1069G>T	ENSP00000435551.2:p.Gly357Cys
ENST00000528356.1:n.183G>T
NM_005055.4:c.1228G>T	NP_005046.2:p.Gly410Cys
NM_032645.4:c.1051G>T	NP_116034.2:p.Gly351Cys
XM_005253042.2:c.1174G>T	XP_005253099.1:p.Gly392Cys
XM_005253043.2:c.1105G>T	XP_005253100.1:p.Gly369Cys
XM_011520252.1:c.1313G>T	XP_011518554.1:p.Trp438Leu
XM_011520253.1:c.1252G>T	XP_011518555.1:p.Gly418Cys
XM_005253042.3:c.1174G>T	XP_005253099.1:p.Gly392Cys
XM_005253043.3:c.1105G>T	XP_005253100.1:p.Gly369Cys
NM_005055.5:c.1228G>T MANE Select	NP_005046.2:p.Gly410Cys
NM_032645.5:c.1051G>T	NP_116034.2:p.Gly351Cys