Canonical Allele Identifier: CA380329342

Gene: RAPSN

Linked Data

• ClinVar Variation Id: 1518617
• ClinVar RCV Id: RCV002023992
• dbSNP Id: rs143668632
• gnomAD v4: 11-47441678-C-A
• MyVariant Identifiers: chr11:g.47463230C>A (hg19) ; chr11:g.47441678C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47441678C>A , CM000673.2:g.47441678C>A	GRCh38
NC_000011.9:g.47463230C>A , CM000673.1:g.47463230C>A	GRCh37
NC_000011.8:g.47419806C>A	NCBI36
NG_008312.1:g.12501G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000298854.7:c.845G>T MANE Select	ENSP00000298854.2:p.Arg282Leu
ENST00000298854.6:c.845G>T	ENSP00000298854.2:p.Arg282Leu
ENST00000352508.7:c.789+145G>T	ENSP00000298853.3:n.789+145G>T
ENST00000524487.5:c.686G>T	ENSP00000435551.2:p.Arg229Leu
ENST00000528356.1:n.54G>T
ENST00000529341.1:c.789+145G>T	ENSP00000431732.1:n.789+145G>T
NM_005055.4:c.845G>T	NP_005046.2:p.Arg282Leu
NM_032645.4:c.789+145G>T	NP_116034.2:n.789+145G>T
XM_005253042.2:c.845G>T	XP_005253099.1:p.Arg282Leu
XM_005253043.2:c.789+145G>T	XP_005253100.1:n.789+145G>T
XM_011520252.1:c.845G>T	XP_011518554.1:p.Arg282Leu
XM_011520253.1:c.845G>T	XP_011518555.1:p.Arg282Leu
XM_005253042.3:c.845G>T	XP_005253099.1:p.Arg282Leu
XM_005253043.3:c.789+145G>T	XP_005253100.1:n.789+145G>T
NM_005055.5:c.845G>T MANE Select	NP_005046.2:p.Arg282Leu
NM_032645.5:c.789+145G>T	NP_116034.2:n.789+145G>T