Canonical Allele Identifier: CA380329231

Gene: RAPSN

Linked Data

• dbSNP Id: rs1270345856
• gnomAD v2: 11-47463219-C-A
• gnomAD v4: 11-47441667-C-A
• MyVariant Identifiers: chr11:g.47463219C>A (hg19) ; chr11:g.47441667C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47441667C>A , CM000673.2:g.47441667C>A	GRCh38
NC_000011.9:g.47463219C>A , CM000673.1:g.47463219C>A	GRCh37
NC_000011.8:g.47419795C>A	NCBI36
NG_008312.1:g.12512G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298854.7:c.856G>T MANE Select	ENSP00000298854.2:p.Val286Leu
ENST00000298854.6:c.856G>T	ENSP00000298854.2:p.Val286Leu
ENST00000352508.7:c.789+156G>T	ENSP00000298853.3:n.789+156G>T
ENST00000524487.5:c.697G>T	ENSP00000435551.2:p.Val233Leu
ENST00000528356.1:n.65G>T
ENST00000529341.1:c.789+156G>T	ENSP00000431732.1:n.789+156G>T
NM_005055.4:c.856G>T	NP_005046.2:p.Val286Leu
NM_032645.4:c.789+156G>T	NP_116034.2:n.789+156G>T
XM_005253042.2:c.856G>T	XP_005253099.1:p.Val286Leu
XM_005253043.2:c.789+156G>T	XP_005253100.1:n.789+156G>T
XM_011520252.1:c.856G>T	XP_011518554.1:p.Val286Leu
XM_011520253.1:c.856G>T	XP_011518555.1:p.Val286Leu
XM_005253042.3:c.856G>T	XP_005253099.1:p.Val286Leu
XM_005253043.3:c.789+156G>T	XP_005253100.1:n.789+156G>T
NM_005055.5:c.856G>T MANE Select	NP_005046.2:p.Val286Leu
NM_032645.5:c.789+156G>T	NP_116034.2:n.789+156G>T