Canonical Allele Identifier: CA405673375

Gene: RYR1

Linked Data

• gnomAD v4: 19-38565410-G-T
• MyVariant Identifiers: chr19:g.39056050G>T (hg19) ; chr19:g.38565410G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565410G>T , CM000681.2:g.38565410G>T	GRCh38
NC_000019.9:g.39056050G>T , CM000681.1:g.39056050G>T	GRCh37
NC_000019.8:g.43747890G>T	NCBI36
NG_008866.1:g.136711G>T , LRG_766:g.136711G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.12G>T
ENST00000688602.1:c.1486G>T
ENST00000689936.1:c.1468G>T
ENST00000359596.8:c.13076G>T MANE Select	ENSP00000352608.2:p.Trp4359Leu
ENST00000355481.8:c.13061G>T	ENSP00000347667.3:p.Trp4354Leu
ENST00000359596.7:c.13076G>T	ENSP00000352608.2:p.Trp4359Leu
ENST00000360985.7:c.13058G>T	ENSP00000354254.4:p.Trp4353Leu
NM_000540.2:c.13076G>T , LRG_766t1:c.13076G>T	NP_000531.2:p.Trp4359Leu
NM_001042723.1:c.13061G>T	NP_001036188.1:p.Trp4354Leu
XM_006723317.1:c.13058G>T	XP_006723380.1:p.Trp4353Leu
XM_006723319.1:c.13043G>T	XP_006723382.1:p.Trp4348Leu
XM_011527204.1:c.13073G>T	XP_011525506.1:p.Trp4358Leu
XM_011527205.1:c.13076G>T	XP_011525507.1:p.Trp4359Leu
XM_006723317.2:c.13058G>T	XP_006723380.1:p.Trp4353Leu
XM_006723319.2:c.13043G>T	XP_006723382.1:p.Trp4348Leu
XM_011527205.2:c.13076G>T	XP_011525507.1:p.Trp4359Leu
NM_000540.3:c.13076G>T MANE Select	NP_000531.2:p.Trp4359Leu
NM_001042723.2:c.13061G>T	NP_001036188.1:p.Trp4354Leu