Canonical Allele Identifier: CA405687650

Gene: RYR1

Linked Data

• ClinVar Variation Id: 1333731
• ClinVar RCV Id: RCV001808946 ; RCV002541476
• dbSNP Id: rs2145896441
• MyVariant Identifiers: chr19:g.39071040G>C (hg19) ; chr19:g.38580400G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38580400G>C , CM000681.2:g.38580400G>C	GRCh38
NC_000019.9:g.39071040G>C , CM000681.1:g.39071040G>C	GRCh37
NC_000019.8:g.43762880G>C	NCBI36
NG_008866.1:g.151701G>C , LRG_766:g.151701G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1478G>C
ENST00000688602.1:c.2875G>C
ENST00000689936.1:c.2847G>C
ENST00000359596.8:c.14542G>C MANE Select	ENSP00000352608.2:p.Val4848Leu
ENST00000355481.8:c.14527G>C	ENSP00000347667.3:p.Val4843Leu
ENST00000359596.7:c.14542G>C	ENSP00000352608.2:p.Val4848Leu
ENST00000360985.7:c.14524G>C	ENSP00000354254.4:p.Val4842Leu
NM_000540.2:c.14542G>C , LRG_766t1:c.14542G>C	NP_000531.2:p.Val4848Leu
NM_001042723.1:c.14527G>C	NP_001036188.1:p.Val4843Leu
XM_006723317.1:c.14524G>C	XP_006723380.1:p.Val4842Leu
XM_006723319.1:c.14509G>C	XP_006723382.1:p.Val4837Leu
XM_011527204.1:c.14539G>C	XP_011525506.1:p.Val4847Leu
XM_011527205.1:c.14455G>C	XP_011525507.1:p.Val4819Leu
XM_006723317.2:c.14524G>C	XP_006723380.1:p.Val4842Leu
XM_006723319.2:c.14509G>C	XP_006723382.1:p.Val4837Leu
XM_011527205.2:c.14455G>C	XP_011525507.1:p.Val4819Leu
NM_000540.3:c.14542G>C MANE Select	NP_000531.2:p.Val4848Leu
NM_001042723.2:c.14527G>C	NP_001036188.1:p.Val4843Leu