Canonical Allele Identifier: CA507355529

Gene: RYR1

Linked Data

• ClinVar Variation Id: 1094583
• ClinVar RCV Id: RCV001415135
• dbSNP Id: rs2145844519
• gnomAD v4: 19-38565225-T-G
• MyVariant Identifiers: chr19:g.39055865T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565225T>G , CM000681.2:g.38565225T>G	GRCh38
NC_000019.9:g.39055865T>G , CM000681.1:g.39055865T>G	GRCh37
NC_000019.8:g.43747705T>G	NCBI36
NG_008866.1:g.136526T>G , LRG_766:g.136526T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000688602.1:c.1301T>G
ENST00000689936.1:c.1283T>G
ENST00000359596.8:c.12891T>G MANE Select	ENSP00000352608.2:p.Val4297=
ENST00000355481.8:c.12876T>G	ENSP00000347667.3:p.Val4292=
ENST00000359596.7:c.12891T>G	ENSP00000352608.2:p.Val4297=
ENST00000360985.7:c.12873T>G	ENSP00000354254.4:p.Val4291=
ENST00000594335.5:c.6260T>G
NM_000540.2:c.12891T>G , LRG_766t1:c.12891T>G	NP_000531.2:p.Val4297=
NM_001042723.1:c.12876T>G	NP_001036188.1:p.Val4292=
XM_006723317.1:c.12873T>G	XP_006723380.1:p.Val4291=
XM_006723319.1:c.12858T>G	XP_006723382.1:p.Val4286=
XM_011527204.1:c.12888T>G	XP_011525506.1:p.Val4296=
XM_011527205.1:c.12891T>G	XP_011525507.1:p.Val4297=
XM_006723317.2:c.12873T>G	XP_006723380.1:p.Val4291=
XM_006723319.2:c.12858T>G	XP_006723382.1:p.Val4286=
XM_011527205.2:c.12891T>G	XP_011525507.1:p.Val4297=
NM_000540.3:c.12891T>G MANE Select	NP_000531.2:p.Val4297=
NM_001042723.2:c.12876T>G	NP_001036188.1:p.Val4292=