Canonical Allele Identifier: CA154878

Gene: RAPSN

Linked Data

• ClinVar Variation Id: 130092
• ClinVar RCV Id: RCV000118120 ; RCV000300801 ; RCV000355918 ; RCV001514411 ; RCV001275245 ; RCV001538025 ; RCV002498526
• dbSNP Id: rs45603036
• ExAC: 11:47463220 C / T
• gnomAD v2: 11-47463220-C-T
• gnomAD v3: 11-47441668-C-T
• gnomAD v4: 11-47441668-C-T
• MyVariant Identifiers: chr11:g.47463220C>T (hg19) ; chr11:g.47441668C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47441668C>T , CM000673.2:g.47441668C>T	GRCh38
NC_000011.9:g.47463220C>T , CM000673.1:g.47463220C>T	GRCh37
NC_000011.8:g.47419796C>T	NCBI36
NG_008312.1:g.12511G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298854.7:c.855G>A MANE Select	ENSP00000298854.2:p.Gln285=
ENST00000298854.6:c.855G>A	ENSP00000298854.2:p.Gln285=
ENST00000352508.7:c.789+155G>A	ENSP00000298853.3:n.789+155G>A
ENST00000524487.5:c.696G>A	ENSP00000435551.2:p.Gln232=
ENST00000528356.1:n.64G>A
ENST00000529341.1:c.789+155G>A	ENSP00000431732.1:n.789+155G>A
NM_005055.4:c.855G>A	NP_005046.2:p.Gln285=
NM_032645.4:c.789+155G>A	NP_116034.2:n.789+155G>A
XM_005253042.2:c.855G>A	XP_005253099.1:p.Gln285=
XM_005253043.2:c.789+155G>A	XP_005253100.1:n.789+155G>A
XM_011520252.1:c.855G>A	XP_011518554.1:p.Gln285=
XM_011520253.1:c.855G>A	XP_011518555.1:p.Gln285=
XM_005253042.3:c.855G>A	XP_005253099.1:p.Gln285=
XM_005253043.3:c.789+155G>A	XP_005253100.1:n.789+155G>A
NM_005055.5:c.855G>A MANE Select	NP_005046.2:p.Gln285=
NM_032645.5:c.789+155G>A	NP_116034.2:n.789+155G>A