Canonical Allele Identifier: CA5976449

Gene: RAPSN

Linked Data

• ClinVar Variation Id: 304968
• ClinVar RCV Id: RCV000296062 ; RCV000371823 ; RCV001537995 ; RCV001618534
• dbSNP Id: rs45617144
• ExAC: 11:47459469 G / A
• gnomAD v2: 11-47459469-G-A
• gnomAD v3: 11-47437918-G-A
• gnomAD v4: 11-47437918-G-A
• MyVariant Identifiers: chr11:g.47459469G>A (hg19) ; chr11:g.47437918G>A (hg38)
• Allelic Epigenome: Alellic Epigenome (raw data)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47437918G>A , CM000673.2:g.47437918G>A	GRCh38
NC_000011.9:g.47459469G>A , CM000673.1:g.47459469G>A	GRCh37
NC_000011.8:g.47416045G>A	NCBI36
NG_008312.1:g.16262C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000298854.7:c.*57C>T MANE Select	ENSP00000298854.2:n.*57C>T
ENST00000298854.6:c.*57C>T	ENSP00000298854.2:n.*57C>T
ENST00000352508.7:c.*57C>T	ENSP00000298853.3:n.*57C>T
ENST00000524487.5:c.*57C>T	ENSP00000435551.2:n.*57C>T
ENST00000528356.1:n.251C>T
NM_005055.4:c.*57C>T	NP_005046.2:n.*57C>T
NM_032645.4:c.*57C>T	NP_116034.2:n.*57C>T
XM_005253042.2:c.*57C>T	XP_005253099.1:n.*57C>T
XM_005253043.2:c.*57C>T	XP_005253100.1:n.*57C>T
XM_011520252.1:c.1381C>T	XP_011518554.1:p.Arg461Cys
XM_011520253.1:c.*57C>T	XP_011518555.1:n.*57C>T
XM_005253042.3:c.*57C>T	XP_005253099.1:n.*57C>T
XM_005253043.3:c.*57C>T	XP_005253100.1:n.*57C>T
NM_005055.5:c.*57C>T MANE Select	NP_005046.2:n.*57C>T
NM_032645.5:c.*57C>T	NP_116034.2:n.*57C>T