Canonical Allele Identifier: CA061537

Gene: RYR1

Linked Data

• ClinVar Variation Id: 857436
• ClinVar RCV Id: RCV001063105 ; RCV003442188
• dbSNP Id: rs557624321
• ExAC: 19:39075645 G / C
• gnomAD v2: 19-39075645-G-C
• gnomAD v3: 19-38585005-G-C
• gnomAD v4: 19-38585005-G-C
• MyVariant Identifiers: chr19:g.39075645G>C (hg19) ; chr19:g.38585005G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38585005G>C , CM000681.2:g.38585005G>C	GRCh38
NC_000019.9:g.39075645G>C , CM000681.1:g.39075645G>C	GRCh37
NC_000019.8:g.43767485G>C	NCBI36
NG_008866.1:g.156306G>C , LRG_766:g.156306G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1645G>C
ENST00000688602.1:c.3042G>C
ENST00000689936.1:c.3014G>C
ENST00000692547.1:n.102G>C
ENST00000359596.8:c.14709G>C MANE Select	ENSP00000352608.2:p.Glu4903Asp
ENST00000355481.8:c.14694G>C	ENSP00000347667.3:p.Glu4898Asp
ENST00000359596.7:c.14709G>C	ENSP00000352608.2:p.Glu4903Asp
ENST00000360985.7:c.14691G>C	ENSP00000354254.4:p.Glu4897Asp
NM_000540.2:c.14709G>C , LRG_766t1:c.14709G>C	NP_000531.2:p.Glu4903Asp
NM_001042723.1:c.14694G>C	NP_001036188.1:p.Glu4898Asp
XM_006723317.1:c.14691G>C	XP_006723380.1:p.Glu4897Asp
XM_006723319.1:c.14676G>C	XP_006723382.1:p.Glu4892Asp
XM_011527204.1:c.14706G>C	XP_011525506.1:p.Glu4902Asp
XM_011527205.1:c.14622G>C	XP_011525507.1:p.Glu4874Asp
XM_006723317.2:c.14691G>C	XP_006723380.1:p.Glu4897Asp
XM_006723319.2:c.14676G>C	XP_006723382.1:p.Glu4892Asp
XM_011527205.2:c.14622G>C	XP_011525507.1:p.Glu4874Asp
NM_000540.3:c.14709G>C MANE Select	NP_000531.2:p.Glu4903Asp
NM_001042723.2:c.14694G>C	NP_001036188.1:p.Glu4898Asp