Canonical Allele Identifier: CA380330346

Gene: RAPSN

Linked Data

• ClinVar Variation Id: 2099888
• ClinVar RCV Id: RCV003023228
• MyVariant Identifiers: chr11:g.47463440G>C (hg19) ; chr11:g.47441888G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47441888G>C , CM000673.2:g.47441888G>C	GRCh38
NC_000011.9:g.47463440G>C , CM000673.1:g.47463440G>C	GRCh37
NC_000011.8:g.47420016G>C	NCBI36
NG_008312.1:g.12291C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298854.7:c.724C>G MANE Select	ENSP00000298854.2:p.Arg242Gly
ENST00000298854.6:c.724C>G	ENSP00000298854.2:p.Arg242Gly
ENST00000352508.7:c.724C>G	ENSP00000298853.3:p.Arg242Gly
ENST00000524487.5:c.565C>G	ENSP00000435551.2:p.Arg189Gly
ENST00000529341.1:c.724C>G	ENSP00000431732.1:p.Arg242Gly
NM_005055.4:c.724C>G	NP_005046.2:p.Arg242Gly
NM_032645.4:c.724C>G	NP_116034.2:p.Arg242Gly
XM_005253042.2:c.724C>G	XP_005253099.1:p.Arg242Gly
XM_005253043.2:c.724C>G	XP_005253100.1:p.Arg242Gly
XM_011520252.1:c.724C>G	XP_011518554.1:p.Arg242Gly
XM_011520253.1:c.724C>G	XP_011518555.1:p.Arg242Gly
XM_005253042.3:c.724C>G	XP_005253099.1:p.Arg242Gly
XM_005253043.3:c.724C>G	XP_005253100.1:p.Arg242Gly
NM_005055.5:c.724C>G MANE Select	NP_005046.2:p.Arg242Gly
NM_032645.5:c.724C>G	NP_116034.2:p.Arg242Gly