Canonical Allele Identifier: CA405673960

Gene: RYR1

Linked Data

• gnomAD v4: 19-38565504-G-T
• MyVariant Identifiers: chr19:g.39056144G>T (hg19) ; chr19:g.38565504G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565504G>T , CM000681.2:g.38565504G>T	GRCh38
NC_000019.9:g.39056144G>T , CM000681.1:g.39056144G>T	GRCh37
NC_000019.8:g.43747984G>T	NCBI36
NG_008866.1:g.136805G>T , LRG_766:g.136805G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.106G>T
ENST00000688602.1:c.1580G>T
ENST00000689936.1:c.1562G>T
ENST00000359596.8:c.13170G>T MANE Select	ENSP00000352608.2:p.Glu4390Asp
ENST00000355481.8:c.13155G>T	ENSP00000347667.3:p.Glu4385Asp
ENST00000359596.7:c.13170G>T	ENSP00000352608.2:p.Glu4390Asp
ENST00000360985.7:c.13152G>T	ENSP00000354254.4:p.Glu4384Asp
NM_000540.2:c.13170G>T , LRG_766t1:c.13170G>T	NP_000531.2:p.Glu4390Asp
NM_001042723.1:c.13155G>T	NP_001036188.1:p.Glu4385Asp
XM_006723317.1:c.13152G>T	XP_006723380.1:p.Glu4384Asp
XM_006723319.1:c.13137G>T	XP_006723382.1:p.Glu4379Asp
XM_011527204.1:c.13167G>T	XP_011525506.1:p.Glu4389Asp
XM_011527205.1:c.13170G>T	XP_011525507.1:p.Glu4390Asp
XM_006723317.2:c.13152G>T	XP_006723380.1:p.Glu4384Asp
XM_006723319.2:c.13137G>T	XP_006723382.1:p.Glu4379Asp
XM_011527205.2:c.13170G>T	XP_011525507.1:p.Glu4390Asp
NM_000540.3:c.13170G>T MANE Select	NP_000531.2:p.Glu4390Asp
NM_001042723.2:c.13155G>T	NP_001036188.1:p.Glu4385Asp