Canonical Allele Identifier: CA081352

Gene: RYR1

Linked Data

• dbSNP Id: rs942072754
• MyVariant Identifiers: chr19:g.39076738G>T (hg19) ; chr19:g.38586098G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38586098G>T , CM000681.2:g.38586098G>T	GRCh38
NC_000019.9:g.39076738G>T , CM000681.1:g.39076738G>T	GRCh37
NC_000019.8:g.43768578G>T	NCBI36
NG_008866.1:g.157399G>T , LRG_766:g.157399G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1812G>T
ENST00000688602.1:c.3209G>T
ENST00000689936.1:c.3181G>T
ENST00000692547.1:n.269G>T
ENST00000359596.8:c.14876G>T MANE Select	ENSP00000352608.2:p.Cys4959Phe
ENST00000355481.8:c.14861G>T	ENSP00000347667.3:p.Cys4954Phe
ENST00000359596.7:c.14876G>T	ENSP00000352608.2:p.Cys4959Phe
ENST00000360985.7:c.14858G>T	ENSP00000354254.4:p.Cys4953Phe
NM_000540.2:c.14876G>T , LRG_766t1:c.14876G>T	NP_000531.2:p.Cys4959Phe
NM_001042723.1:c.14861G>T	NP_001036188.1:p.Cys4954Phe
XM_006723317.1:c.14858G>T	XP_006723380.1:p.Cys4953Phe
XM_006723319.1:c.14843G>T	XP_006723382.1:p.Cys4948Phe
XM_011527204.1:c.14873G>T	XP_011525506.1:p.Cys4958Phe
XM_011527205.1:c.14789G>T	XP_011525507.1:p.Cys4930Phe
XM_006723317.2:c.14858G>T	XP_006723380.1:p.Cys4953Phe
XM_006723319.2:c.14843G>T	XP_006723382.1:p.Cys4948Phe
XM_011527205.2:c.14789G>T	XP_011525507.1:p.Cys4930Phe
NM_000540.3:c.14876G>T MANE Select	NP_000531.2:p.Cys4959Phe
NM_001042723.2:c.14861G>T	NP_001036188.1:p.Cys4954Phe