Canonical Allele Identifier: CA405673015

Gene: RYR1

Linked Data

• dbSNP Id: rs1186945915
• MyVariant Identifiers: chr19:g.39055992G>C (hg19) ; chr19:g.38565352G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565352G>C , CM000681.2:g.38565352G>C	GRCh38
NC_000019.9:g.39055992G>C , CM000681.1:g.39055992G>C	GRCh37
NC_000019.8:g.43747832G>C	NCBI36
NG_008866.1:g.136653G>C , LRG_766:g.136653G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.1428G>C
ENST00000689936.1:c.1410G>C
ENST00000359596.8:c.13018G>C MANE Select	ENSP00000352608.2:p.Val4340Leu
ENST00000355481.8:c.13003G>C	ENSP00000347667.3:p.Val4335Leu
ENST00000359596.7:c.13018G>C	ENSP00000352608.2:p.Val4340Leu
ENST00000360985.7:c.13000G>C	ENSP00000354254.4:p.Val4334Leu
NM_000540.2:c.13018G>C , LRG_766t1:c.13018G>C	NP_000531.2:p.Val4340Leu
NM_001042723.1:c.13003G>C	NP_001036188.1:p.Val4335Leu
XM_006723317.1:c.13000G>C	XP_006723380.1:p.Val4334Leu
XM_006723319.1:c.12985G>C	XP_006723382.1:p.Val4329Leu
XM_011527204.1:c.13015G>C	XP_011525506.1:p.Val4339Leu
XM_011527205.1:c.13018G>C	XP_011525507.1:p.Val4340Leu
XM_006723317.2:c.13000G>C	XP_006723380.1:p.Val4334Leu
XM_006723319.2:c.12985G>C	XP_006723382.1:p.Val4329Leu
XM_011527205.2:c.13018G>C	XP_011525507.1:p.Val4340Leu
NM_000540.3:c.13018G>C MANE Select	NP_000531.2:p.Val4340Leu
NM_001042723.2:c.13003G>C	NP_001036188.1:p.Val4335Leu