Canonical Allele Identifier: CA507246638

Gene: RYR1

Linked Data

• ClinVar Variation Id: 3072511
• ClinVar RCV Id: RCV004013533
• dbSNP Id: rs535386378
• gnomAD v2: 19-39076781-G-T
• gnomAD v3: 19-38586141-G-T
• gnomAD v4: 19-38586141-G-T
• MyVariant Identifiers: chr19:g.39076781G>T (hg19) ; chr19:g.38586141G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38586141G>T , CM000681.2:g.38586141G>T	GRCh38
NC_000019.9:g.39076781G>T , CM000681.1:g.39076781G>T	GRCh37
NC_000019.8:g.43768621G>T	NCBI36
NG_008866.1:g.157442G>T , LRG_766:g.157442G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1855G>T
ENST00000688602.1:c.3252G>T
ENST00000689936.1:c.3224G>T
ENST00000692547.1:n.312G>T
ENST00000359596.8:c.14919G>T MANE Select	ENSP00000352608.2:p.Pro4973=
ENST00000355481.8:c.14904G>T	ENSP00000347667.3:p.Pro4968=
ENST00000359596.7:c.14919G>T	ENSP00000352608.2:p.Pro4973=
ENST00000360985.7:c.14901G>T	ENSP00000354254.4:p.Pro4967=
NM_000540.2:c.14919G>T , LRG_766t1:c.14919G>T	NP_000531.2:p.Pro4973=
NM_001042723.1:c.14904G>T	NP_001036188.1:p.Pro4968=
XM_006723317.1:c.14901G>T	XP_006723380.1:p.Pro4967=
XM_006723319.1:c.14886G>T	XP_006723382.1:p.Pro4962=
XM_011527204.1:c.14916G>T	XP_011525506.1:p.Pro4972=
XM_011527205.1:c.14832G>T	XP_011525507.1:p.Pro4944=
XM_006723317.2:c.14901G>T	XP_006723380.1:p.Pro4967=
XM_006723319.2:c.14886G>T	XP_006723382.1:p.Pro4962=
XM_011527205.2:c.14832G>T	XP_011525507.1:p.Pro4944=
NM_000540.3:c.14919G>T MANE Select	NP_000531.2:p.Pro4973=
NM_001042723.2:c.14904G>T	NP_001036188.1:p.Pro4968=