Canonical Allele Identifier: CA5976655

Gene: RAPSN

Linked Data

• ClinVar Variation Id: 1495222
• ClinVar RCV Id: RCV002028219
• dbSNP Id: rs780963721
• ExAC: 11:47463439 C / G
• gnomAD v2: 11-47463439-C-G
• gnomAD v3: 11-47441887-C-G
• gnomAD v4: 11-47441887-C-G
• MyVariant Identifiers: chr11:g.47463439C>G (hg19) ; chr11:g.47441887C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47441887C>G , CM000673.2:g.47441887C>G	GRCh38
NC_000011.9:g.47463439C>G , CM000673.1:g.47463439C>G	GRCh37
NC_000011.8:g.47420015C>G	NCBI36
NG_008312.1:g.12292G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298854.7:c.725G>C MANE Select	ENSP00000298854.2:p.Arg242Pro
ENST00000298854.6:c.725G>C	ENSP00000298854.2:p.Arg242Pro
ENST00000352508.7:c.725G>C	ENSP00000298853.3:p.Arg242Pro
ENST00000524487.5:c.566G>C	ENSP00000435551.2:p.Arg189Pro
ENST00000529341.1:c.725G>C	ENSP00000431732.1:p.Arg242Pro
NM_005055.4:c.725G>C	NP_005046.2:p.Arg242Pro
NM_032645.4:c.725G>C	NP_116034.2:p.Arg242Pro
XM_005253042.2:c.725G>C	XP_005253099.1:p.Arg242Pro
XM_005253043.2:c.725G>C	XP_005253100.1:p.Arg242Pro
XM_011520252.1:c.725G>C	XP_011518554.1:p.Arg242Pro
XM_011520253.1:c.725G>C	XP_011518555.1:p.Arg242Pro
XM_005253042.3:c.725G>C	XP_005253099.1:p.Arg242Pro
XM_005253043.3:c.725G>C	XP_005253100.1:p.Arg242Pro
NM_005055.5:c.725G>C MANE Select	NP_005046.2:p.Arg242Pro
NM_032645.5:c.725G>C	NP_116034.2:p.Arg242Pro