Canonical Allele Identifier: CA405692683

Gene: RYR1

Linked Data

• dbSNP Id: rs1486207358
• gnomAD v2: 19-39076747-G-T
• MyVariant Identifiers: chr19:g.39076747G>T (hg19) ; chr19:g.38586107G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38586107G>T , CM000681.2:g.38586107G>T	GRCh38
NC_000019.9:g.39076747G>T , CM000681.1:g.39076747G>T	GRCh37
NC_000019.8:g.43768587G>T	NCBI36
NG_008866.1:g.157408G>T , LRG_766:g.157408G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1821G>T
ENST00000688602.1:c.3218G>T
ENST00000689936.1:c.3190G>T
ENST00000692547.1:n.278G>T
ENST00000359596.8:c.14885G>T MANE Select	ENSP00000352608.2:p.Cys4962Phe
ENST00000355481.8:c.14870G>T	ENSP00000347667.3:p.Cys4957Phe
ENST00000359596.7:c.14885G>T	ENSP00000352608.2:p.Cys4962Phe
ENST00000360985.7:c.14867G>T	ENSP00000354254.4:p.Cys4956Phe
NM_000540.2:c.14885G>T , LRG_766t1:c.14885G>T	NP_000531.2:p.Cys4962Phe
NM_001042723.1:c.14870G>T	NP_001036188.1:p.Cys4957Phe
XM_006723317.1:c.14867G>T	XP_006723380.1:p.Cys4956Phe
XM_006723319.1:c.14852G>T	XP_006723382.1:p.Cys4951Phe
XM_011527204.1:c.14882G>T	XP_011525506.1:p.Cys4961Phe
XM_011527205.1:c.14798G>T	XP_011525507.1:p.Cys4933Phe
XM_006723317.2:c.14867G>T	XP_006723380.1:p.Cys4956Phe
XM_006723319.2:c.14852G>T	XP_006723382.1:p.Cys4951Phe
XM_011527205.2:c.14798G>T	XP_011525507.1:p.Cys4933Phe
NM_000540.3:c.14885G>T MANE Select	NP_000531.2:p.Cys4962Phe
NM_001042723.2:c.14870G>T	NP_001036188.1:p.Cys4957Phe