Canonical Allele Identifier: CA405672861

Gene: RYR1

Linked Data

• gnomAD v4: 19-38565322-A-G
• MyVariant Identifiers: chr19:g.39055962A>G (hg19) ; chr19:g.38565322A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565322A>G , CM000681.2:g.38565322A>G	GRCh38
NC_000019.9:g.39055962A>G , CM000681.1:g.39055962A>G	GRCh37
NC_000019.8:g.43747802A>G	NCBI36
NG_008866.1:g.136623A>G , LRG_766:g.136623A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.1398A>G
ENST00000689936.1:c.1380A>G
ENST00000359596.8:c.12988A>G MANE Select	ENSP00000352608.2:p.Thr4330Ala
ENST00000355481.8:c.12973A>G	ENSP00000347667.3:p.Thr4325Ala
ENST00000359596.7:c.12988A>G	ENSP00000352608.2:p.Thr4330Ala
ENST00000360985.7:c.12970A>G	ENSP00000354254.4:p.Thr4324Ala
NM_000540.2:c.12988A>G , LRG_766t1:c.12988A>G	NP_000531.2:p.Thr4330Ala
NM_001042723.1:c.12973A>G	NP_001036188.1:p.Thr4325Ala
XM_006723317.1:c.12970A>G	XP_006723380.1:p.Thr4324Ala
XM_006723319.1:c.12955A>G	XP_006723382.1:p.Thr4319Ala
XM_011527204.1:c.12985A>G	XP_011525506.1:p.Thr4329Ala
XM_011527205.1:c.12988A>G	XP_011525507.1:p.Thr4330Ala
XM_006723317.2:c.12970A>G	XP_006723380.1:p.Thr4324Ala
XM_006723319.2:c.12955A>G	XP_006723382.1:p.Thr4319Ala
XM_011527205.2:c.12988A>G	XP_011525507.1:p.Thr4330Ala
NM_000540.3:c.12988A>G MANE Select	NP_000531.2:p.Thr4330Ala
NM_001042723.2:c.12973A>G	NP_001036188.1:p.Thr4325Ala