Canonical Allele Identifier: CA507243249

Gene: RYR1

Linked Data

• gnomAD v4: 19-38499227-T-C
• MyVariant Identifiers: chr19:g.38989867T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38499227T>C , CM000681.2:g.38499227T>C	GRCh38
NC_000019.9:g.38989867T>C , CM000681.1:g.38989867T>C	GRCh37
NC_000019.8:g.43681707T>C	NCBI36
NG_008866.1:g.70528T>C , LRG_766:g.70528T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.7011T>C	ENSP00000471601.2:p.Phe2337=
ENST00000359596.8:c.7011T>C MANE Select	ENSP00000352608.2:p.Phe2337=
ENST00000355481.8:c.7011T>C	ENSP00000347667.3:p.Phe2337=
ENST00000359596.7:c.7011T>C	ENSP00000352608.2:p.Phe2337=
ENST00000360985.7:c.7008T>C	ENSP00000354254.4:p.Phe2336=
ENST00000594335.5:c.463T>C
NM_000540.2:c.7011T>C , LRG_766t1:c.7011T>C	NP_000531.2:p.Phe2337=
NM_001042723.1:c.7011T>C	NP_001036188.1:p.Phe2337=
XM_006723317.1:c.7011T>C	XP_006723380.1:p.Phe2337=
XM_006723319.1:c.7011T>C	XP_006723382.1:p.Phe2337=
XM_011527204.1:c.7008T>C	XP_011525506.1:p.Phe2336=
XM_011527205.1:c.7011T>C	XP_011525507.1:p.Phe2337=
XM_006723317.2:c.7011T>C	XP_006723380.1:p.Phe2337=
XM_006723319.2:c.7011T>C	XP_006723382.1:p.Phe2337=
XM_011527205.2:c.7011T>C	XP_011525507.1:p.Phe2337=
XR_001753735.1:n.7094T>C
NM_000540.3:c.7011T>C MANE Select	NP_000531.2:p.Phe2337=
NM_001042723.2:c.7011T>C	NP_001036188.1:p.Phe2337=