Canonical Allele Identifier: CA405673404

Gene: RYR1

Linked Data

• dbSNP Id: rs1445849233
• gnomAD v4: 19-38565421-T-C
• MyVariant Identifiers: chr19:g.39056061T>C (hg19) ; chr19:g.38565421T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565421T>C , CM000681.2:g.38565421T>C	GRCh38
NC_000019.9:g.39056061T>C , CM000681.1:g.39056061T>C	GRCh37
NC_000019.8:g.43747901T>C	NCBI36
NG_008866.1:g.136722T>C , LRG_766:g.136722T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.23T>C
ENST00000688602.1:c.1497T>C
ENST00000689936.1:c.1479T>C
ENST00000359596.8:c.13087T>C MANE Select	ENSP00000352608.2:p.Phe4363Leu
ENST00000355481.8:c.13072T>C	ENSP00000347667.3:p.Phe4358Leu
ENST00000359596.7:c.13087T>C	ENSP00000352608.2:p.Phe4363Leu
ENST00000360985.7:c.13069T>C	ENSP00000354254.4:p.Phe4357Leu
NM_000540.2:c.13087T>C , LRG_766t1:c.13087T>C	NP_000531.2:p.Phe4363Leu
NM_001042723.1:c.13072T>C	NP_001036188.1:p.Phe4358Leu
XM_006723317.1:c.13069T>C	XP_006723380.1:p.Phe4357Leu
XM_006723319.1:c.13054T>C	XP_006723382.1:p.Phe4352Leu
XM_011527204.1:c.13084T>C	XP_011525506.1:p.Phe4362Leu
XM_011527205.1:c.13087T>C	XP_011525507.1:p.Phe4363Leu
XM_006723317.2:c.13069T>C	XP_006723380.1:p.Phe4357Leu
XM_006723319.2:c.13054T>C	XP_006723382.1:p.Phe4352Leu
XM_011527205.2:c.13087T>C	XP_011525507.1:p.Phe4363Leu
NM_000540.3:c.13087T>C MANE Select	NP_000531.2:p.Phe4363Leu
NM_001042723.2:c.13072T>C	NP_001036188.1:p.Phe4358Leu