Canonical Allele Identifier: CA405681327

Gene: RYR1

Linked Data

• MyVariant Identifiers: chr19:g.39062866A>C (hg19) ; chr19:g.38572226A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38572226A>C , CM000681.2:g.38572226A>C	GRCh38
NC_000019.9:g.39062866A>C , CM000681.1:g.39062866A>C	GRCh37
NC_000019.8:g.43754706A>C	NCBI36
NG_008866.1:g.143527A>C , LRG_766:g.143527A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.890A>C
ENST00000688602.1:c.2287A>C
ENST00000689936.1:c.2259A>C
ENST00000359596.8:c.13954A>C MANE Select	ENSP00000352608.2:p.Thr4652Pro
ENST00000355481.8:c.13939A>C	ENSP00000347667.3:p.Thr4647Pro
ENST00000359596.7:c.13954A>C	ENSP00000352608.2:p.Thr4652Pro
ENST00000360985.7:c.13936A>C	ENSP00000354254.4:p.Thr4646Pro
ENST00000593677.1:c.414A>C
NM_000540.2:c.13954A>C , LRG_766t1:c.13954A>C	NP_000531.2:p.Thr4652Pro
NM_001042723.1:c.13939A>C	NP_001036188.1:p.Thr4647Pro
XM_006723317.1:c.13936A>C	XP_006723380.1:p.Thr4646Pro
XM_006723319.1:c.13921A>C	XP_006723382.1:p.Thr4641Pro
XM_011527204.1:c.13951A>C	XP_011525506.1:p.Thr4651Pro
XM_011527205.1:c.13867A>C	XP_011525507.1:p.Thr4623Pro
XM_006723317.2:c.13936A>C	XP_006723380.1:p.Thr4646Pro
XM_006723319.2:c.13921A>C	XP_006723382.1:p.Thr4641Pro
XM_011527205.2:c.13867A>C	XP_011525507.1:p.Thr4623Pro
NM_000540.3:c.13954A>C MANE Select	NP_000531.2:p.Thr4652Pro
NM_001042723.2:c.13939A>C	NP_001036188.1:p.Thr4647Pro