Canonical Allele Identifier: CA405681846
Gene: RYR1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.39063830T>G (hg19) chr19:g.38573190T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38573190T>G , CM000681.2:g.38573190T>G GRCh38
NC_000019.9:g.39063830T>G , CM000681.1:g.39063830T>G GRCh37
NC_000019.8:g.43755670T>G NCBI36
NG_008866.1:g.144491T>G , LRG_766:g.144491T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.948T>G
ENST00000688602.1:c.2345T>G
ENST00000689936.1:c.2317T>G
ENST00000359596.8:c.14012T>G MANE Select ENSP00000352608.2:p.Ile4671Ser
ENST00000355481.8:c.13997T>G ENSP00000347667.3:p.Ile4666Ser
ENST00000359596.7:c.14012T>G ENSP00000352608.2:p.Ile4671Ser
ENST00000360985.7:c.13994T>G ENSP00000354254.4:p.Ile4665Ser
NM_000540.2:c.14012T>G , LRG_766t1:c.14012T>G NP_000531.2:p.Ile4671Ser
NM_001042723.1:c.13997T>G NP_001036188.1:p.Ile4666Ser
XM_006723317.1:c.13994T>G XP_006723380.1:p.Ile4665Ser
XM_006723319.1:c.13979T>G XP_006723382.1:p.Ile4660Ser
XM_011527204.1:c.14009T>G XP_011525506.1:p.Ile4670Ser
XM_011527205.1:c.13925T>G XP_011525507.1:p.Ile4642Ser
XM_006723317.2:c.13994T>G XP_006723380.1:p.Ile4665Ser
XM_006723319.2:c.13979T>G XP_006723382.1:p.Ile4660Ser
XM_011527205.2:c.13925T>G XP_011525507.1:p.Ile4642Ser
NM_000540.3:c.14012T>G MANE Select NP_000531.2:p.Ile4671Ser
NM_001042723.2:c.13997T>G NP_001036188.1:p.Ile4666Ser
Search 100 bp 5'
Search 100 bp 3'