Canonical Allele Identifier: CA405682504

Gene: RYR1

Linked Data

• gnomAD v4: 19-38573275-G-C
• MyVariant Identifiers: chr19:g.39063915G>C (hg19) ; chr19:g.38573275G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38573275G>C , CM000681.2:g.38573275G>C	GRCh38
NC_000019.9:g.39063915G>C , CM000681.1:g.39063915G>C	GRCh37
NC_000019.8:g.43755755G>C	NCBI36
NG_008866.1:g.144576G>C , LRG_766:g.144576G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1033G>C
ENST00000688602.1:c.2430G>C
ENST00000689936.1:c.2402G>C
ENST00000359596.8:c.14097G>C MANE Select	ENSP00000352608.2:p.Lys4699Asn
ENST00000355481.8:c.14082G>C	ENSP00000347667.3:p.Lys4694Asn
ENST00000359596.7:c.14097G>C	ENSP00000352608.2:p.Lys4699Asn
ENST00000360985.7:c.14079G>C	ENSP00000354254.4:p.Lys4693Asn
NM_000540.2:c.14097G>C , LRG_766t1:c.14097G>C	NP_000531.2:p.Lys4699Asn
NM_001042723.1:c.14082G>C	NP_001036188.1:p.Lys4694Asn
XM_006723317.1:c.14079G>C	XP_006723380.1:p.Lys4693Asn
XM_006723319.1:c.14064G>C	XP_006723382.1:p.Lys4688Asn
XM_011527204.1:c.14094G>C	XP_011525506.1:p.Lys4698Asn
XM_011527205.1:c.14010G>C	XP_011525507.1:p.Lys4670Asn
XM_006723317.2:c.14079G>C	XP_006723380.1:p.Lys4693Asn
XM_006723319.2:c.14064G>C	XP_006723382.1:p.Lys4688Asn
XM_011527205.2:c.14010G>C	XP_011525507.1:p.Lys4670Asn
NM_000540.3:c.14097G>C MANE Select	NP_000531.2:p.Lys4699Asn
NM_001042723.2:c.14082G>C	NP_001036188.1:p.Lys4694Asn