Canonical Allele Identifier: CA380325377

Gene: RAPSN

Linked Data

• MyVariant Identifiers: chr11:g.47459536C>T (hg19) ; chr11:g.47437985C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47437985C>T , CM000673.2:g.47437985C>T	GRCh38
NC_000011.9:g.47459536C>T , CM000673.1:g.47459536C>T	GRCh37
NC_000011.8:g.47416112C>T	NCBI36
NG_008312.1:g.16195G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298854.7:c.1229G>A MANE Select	ENSP00000298854.2:p.Gly410Asp
ENST00000298854.6:c.1229G>A	ENSP00000298854.2:p.Gly410Asp
ENST00000352508.7:c.1052G>A	ENSP00000298853.3:p.Gly351Asp
ENST00000524487.5:c.1070G>A	ENSP00000435551.2:p.Gly357Asp
ENST00000528356.1:n.184G>A
NM_005055.4:c.1229G>A	NP_005046.2:p.Gly410Asp
NM_032645.4:c.1052G>A	NP_116034.2:p.Gly351Asp
XM_005253042.2:c.1175G>A	XP_005253099.1:p.Gly392Asp
XM_005253043.2:c.1106G>A	XP_005253100.1:p.Gly369Asp
XM_011520252.1:c.1314G>A	XP_011518554.1:p.Trp438Ter
XM_011520253.1:c.1253G>A	XP_011518555.1:p.Gly418Asp
XM_005253042.3:c.1175G>A	XP_005253099.1:p.Gly392Asp
XM_005253043.3:c.1106G>A	XP_005253100.1:p.Gly369Asp
NM_005055.5:c.1229G>A MANE Select	NP_005046.2:p.Gly410Asp
NM_032645.5:c.1052G>A	NP_116034.2:p.Gly351Asp