Canonical Allele Identifier: CA5976645

Gene: RAPSN

Linked Data

• ClinVar Variation Id: 2154397
• ClinVar RCV Id: RCV003069261
• dbSNP Id: rs200066826
• ExAC: 11:47463394 C / T
• gnomAD v2: 11-47463394-C-T
• gnomAD v3: 11-47441842-C-T
• gnomAD v4: 11-47441842-C-T
• MyVariant Identifiers: chr11:g.47463394C>T (hg19) ; chr11:g.47441842C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47441842C>T , CM000673.2:g.47441842C>T	GRCh38
NC_000011.9:g.47463394C>T , CM000673.1:g.47463394C>T	GRCh37
NC_000011.8:g.47419970C>T	NCBI36
NG_008312.1:g.12337G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298854.7:c.770G>A MANE Select	ENSP00000298854.2:p.Arg257Gln
ENST00000298854.6:c.770G>A	ENSP00000298854.2:p.Arg257Gln
ENST00000352508.7:c.770G>A	ENSP00000298853.3:p.Arg257Gln
ENST00000524487.5:c.611G>A	ENSP00000435551.2:p.Arg204Gln
ENST00000529341.1:c.770G>A	ENSP00000431732.1:p.Arg257Gln
NM_005055.4:c.770G>A	NP_005046.2:p.Arg257Gln
NM_032645.4:c.770G>A	NP_116034.2:p.Arg257Gln
XM_005253042.2:c.770G>A	XP_005253099.1:p.Arg257Gln
XM_005253043.2:c.770G>A	XP_005253100.1:p.Arg257Gln
XM_011520252.1:c.770G>A	XP_011518554.1:p.Arg257Gln
XM_011520253.1:c.770G>A	XP_011518555.1:p.Arg257Gln
XM_005253042.3:c.770G>A	XP_005253099.1:p.Arg257Gln
XM_005253043.3:c.770G>A	XP_005253100.1:p.Arg257Gln
NM_005055.5:c.770G>A MANE Select	NP_005046.2:p.Arg257Gln
NM_032645.5:c.770G>A	NP_116034.2:p.Arg257Gln