Canonical Allele Identifier: CA380325331

Gene: RAPSN

Linked Data

• MyVariant Identifiers: chr11:g.47459526T>C (hg19) ; chr11:g.47437975T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47437975T>C , CM000673.2:g.47437975T>C	GRCh38
NC_000011.9:g.47459526T>C , CM000673.1:g.47459526T>C	GRCh37
NC_000011.8:g.47416102T>C	NCBI36
NG_008312.1:g.16205A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298854.7:c.1239A>G MANE Select	ENSP00000298854.2:p.Ter413Trp
ENST00000298854.6:c.1239A>G	ENSP00000298854.2:p.Ter413Trp
ENST00000352508.7:c.1062A>G	ENSP00000298853.3:p.Ter354Trp
ENST00000524487.5:c.1080A>G	ENSP00000435551.2:p.Ter360Trp
ENST00000528356.1:n.194A>G
NM_005055.4:c.1239A>G	NP_005046.2:p.Ter413Trp
NM_032645.4:c.1062A>G	NP_116034.2:p.Ter354Trp
XM_005253042.2:c.1185A>G	XP_005253099.1:p.Ter395Trp
XM_005253043.2:c.1116A>G	XP_005253100.1:p.Ter372Trp
XM_011520252.1:c.1324A>G	XP_011518554.1:p.Thr442Ala
XM_011520253.1:c.1263A>G	XP_011518555.1:p.Ter421Trp
XM_005253042.3:c.1185A>G	XP_005253099.1:p.Ter395Trp
XM_005253043.3:c.1116A>G	XP_005253100.1:p.Ter372Trp
NM_005055.5:c.1239A>G MANE Select	NP_005046.2:p.Ter413Trp
NM_032645.5:c.1062A>G	NP_116034.2:p.Ter354Trp