Canonical Allele Identifier: CA405669922

Gene: RYR1

Linked Data

• gnomAD v4: 19-38561443-G-C
• MyVariant Identifiers: chr19:g.39052083G>C (hg19) ; chr19:g.38561443G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38561443G>C , CM000681.2:g.38561443G>C	GRCh38
NC_000019.9:g.39052083G>C , CM000681.1:g.39052083G>C	GRCh37
NC_000019.8:g.43743923G>C	NCBI36
NG_008866.1:g.132744G>C , LRG_766:g.132744G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000688602.1:c.1023G>C
ENST00000689936.1:c.1005G>C
ENST00000359596.8:c.12613G>C MANE Select	ENSP00000352608.2:p.Glu4205Gln
ENST00000355481.8:c.12598G>C	ENSP00000347667.3:p.Glu4200Gln
ENST00000359596.7:c.12613G>C	ENSP00000352608.2:p.Glu4205Gln
ENST00000360985.7:c.12595G>C	ENSP00000354254.4:p.Glu4199Gln
ENST00000594335.5:c.5982G>C
NM_000540.2:c.12613G>C , LRG_766t1:c.12613G>C	NP_000531.2:p.Glu4205Gln
NM_001042723.1:c.12598G>C	NP_001036188.1:p.Glu4200Gln
XM_006723317.1:c.12595G>C	XP_006723380.1:p.Glu4199Gln
XM_006723319.1:c.12580G>C	XP_006723382.1:p.Glu4194Gln
XM_011527204.1:c.12610G>C	XP_011525506.1:p.Glu4204Gln
XM_011527205.1:c.12613G>C	XP_011525507.1:p.Glu4205Gln
XM_006723317.2:c.12595G>C	XP_006723380.1:p.Glu4199Gln
XM_006723319.2:c.12580G>C	XP_006723382.1:p.Glu4194Gln
XM_011527205.2:c.12613G>C	XP_011525507.1:p.Glu4205Gln
NM_000540.3:c.12613G>C MANE Select	NP_000531.2:p.Glu4205Gln
NM_001042723.2:c.12598G>C	NP_001036188.1:p.Glu4200Gln