Canonical Allele Identifier: CA061214

Gene: RYR1

Linked Data

• dbSNP Id: rs777256680
• ExAC: 19:39070666 A / T
• gnomAD v2: 19-39070666-A-T
• MyVariant Identifiers: chr19:g.39070666A>T (hg19) ; chr19:g.38580026A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38580026A>T , CM000681.2:g.38580026A>T	GRCh38
NC_000019.9:g.39070666A>T , CM000681.1:g.39070666A>T	GRCh37
NC_000019.8:g.43762506A>T	NCBI36
NG_008866.1:g.151327A>T , LRG_766:g.151327A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1345A>T
ENST00000688602.1:c.2742A>T
ENST00000689936.1:c.2714A>T
ENST00000359596.8:c.14409A>T MANE Select	ENSP00000352608.2:p.Gly4803=
ENST00000355481.8:c.14394A>T	ENSP00000347667.3:p.Gly4798=
ENST00000359596.7:c.14409A>T	ENSP00000352608.2:p.Gly4803=
ENST00000360985.7:c.14391A>T	ENSP00000354254.4:p.Gly4797=
NM_000540.2:c.14409A>T , LRG_766t1:c.14409A>T	NP_000531.2:p.Gly4803=
NM_001042723.1:c.14394A>T	NP_001036188.1:p.Gly4798=
XM_006723317.1:c.14391A>T	XP_006723380.1:p.Gly4797=
XM_006723319.1:c.14376A>T	XP_006723382.1:p.Gly4792=
XM_011527204.1:c.14406A>T	XP_011525506.1:p.Gly4802=
XM_011527205.1:c.14322A>T	XP_011525507.1:p.Gly4774=
XM_006723317.2:c.14391A>T	XP_006723380.1:p.Gly4797=
XM_006723319.2:c.14376A>T	XP_006723382.1:p.Gly4792=
XM_011527205.2:c.14322A>T	XP_011525507.1:p.Gly4774=
NM_000540.3:c.14409A>T MANE Select	NP_000531.2:p.Gly4803=
NM_001042723.2:c.14394A>T	NP_001036188.1:p.Gly4798=