Canonical Allele Identifier: CA405682524

Gene: RYR1

Linked Data

• dbSNP Id: rs1973807420
• gnomAD v4: 19-38573280-A-C
• MyVariant Identifiers: chr19:g.39063920A>C (hg19) ; chr19:g.38573280A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38573280A>C , CM000681.2:g.38573280A>C	GRCh38
NC_000019.9:g.39063920A>C , CM000681.1:g.39063920A>C	GRCh37
NC_000019.8:g.43755760A>C	NCBI36
NG_008866.1:g.144581A>C , LRG_766:g.144581A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1038A>C
ENST00000688602.1:c.2435A>C
ENST00000689936.1:c.2407A>C
ENST00000359596.8:c.14102A>C MANE Select	ENSP00000352608.2:p.Gln4701Pro
ENST00000355481.8:c.14087A>C	ENSP00000347667.3:p.Gln4696Pro
ENST00000359596.7:c.14102A>C	ENSP00000352608.2:p.Gln4701Pro
ENST00000360985.7:c.14084A>C	ENSP00000354254.4:p.Gln4695Pro
NM_000540.2:c.14102A>C , LRG_766t1:c.14102A>C	NP_000531.2:p.Gln4701Pro
NM_001042723.1:c.14087A>C	NP_001036188.1:p.Gln4696Pro
XM_006723317.1:c.14084A>C	XP_006723380.1:p.Gln4695Pro
XM_006723319.1:c.14069A>C	XP_006723382.1:p.Gln4690Pro
XM_011527204.1:c.14099A>C	XP_011525506.1:p.Gln4700Pro
XM_011527205.1:c.14015A>C	XP_011525507.1:p.Gln4672Pro
XM_006723317.2:c.14084A>C	XP_006723380.1:p.Gln4695Pro
XM_006723319.2:c.14069A>C	XP_006723382.1:p.Gln4690Pro
XM_011527205.2:c.14015A>C	XP_011525507.1:p.Gln4672Pro
NM_000540.3:c.14102A>C MANE Select	NP_000531.2:p.Gln4701Pro
NM_001042723.2:c.14087A>C	NP_001036188.1:p.Gln4696Pro