Canonical Allele Identifier: CA380329703

Gene: RAPSN

Linked Data

• ClinVar Variation Id: 2106520
• ClinVar RCV Id: RCV003015184
• gnomAD v4: 11-47441706-T-G
• MyVariant Identifiers: chr11:g.47463258T>G (hg19) ; chr11:g.47441706T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47441706T>G , CM000673.2:g.47441706T>G	GRCh38
NC_000011.9:g.47463258T>G , CM000673.1:g.47463258T>G	GRCh37
NC_000011.8:g.47419834T>G	NCBI36
NG_008312.1:g.12473A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000298854.7:c.817A>C MANE Select	ENSP00000298854.2:p.Met273Leu
ENST00000298854.6:c.817A>C	ENSP00000298854.2:p.Met273Leu
ENST00000352508.7:c.789+117A>C	ENSP00000298853.3:n.789+117A>C
ENST00000524487.5:c.658A>C	ENSP00000435551.2:p.Met220Leu
ENST00000528356.1:n.26A>C
ENST00000529341.1:c.789+117A>C	ENSP00000431732.1:n.789+117A>C
NM_005055.4:c.817A>C	NP_005046.2:p.Met273Leu
NM_032645.4:c.789+117A>C	NP_116034.2:n.789+117A>C
XM_005253042.2:c.817A>C	XP_005253099.1:p.Met273Leu
XM_005253043.2:c.789+117A>C	XP_005253100.1:n.789+117A>C
XM_011520252.1:c.817A>C	XP_011518554.1:p.Met273Leu
XM_011520253.1:c.817A>C	XP_011518555.1:p.Met273Leu
XM_005253042.3:c.817A>C	XP_005253099.1:p.Met273Leu
XM_005253043.3:c.789+117A>C	XP_005253100.1:n.789+117A>C
NM_005055.5:c.817A>C MANE Select	NP_005046.2:p.Met273Leu
NM_032645.5:c.789+117A>C	NP_116034.2:n.789+117A>C