Canonical Allele Identifier: CA405681802
Gene: RYR1 HGNC NCBI

Linked Data

dbSNP Id: rs1200580134
gnomAD v2: 19-39063821-C-T
MyVariant Identifiers: chr19:g.39063821C>T (hg19) chr19:g.38573181C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38573181C>T , CM000681.2:g.38573181C>T GRCh38
NC_000019.9:g.39063821C>T , CM000681.1:g.39063821C>T GRCh37
NC_000019.8:g.43755661C>T NCBI36
NG_008866.1:g.144482C>T , LRG_766:g.144482C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.939C>T
ENST00000688602.1:c.2336C>T
ENST00000689936.1:c.2308C>T
ENST00000359596.8:c.14003C>T MANE Select ENSP00000352608.2:p.Pro4668Leu
ENST00000355481.8:c.13988C>T ENSP00000347667.3:p.Pro4663Leu
ENST00000359596.7:c.14003C>T ENSP00000352608.2:p.Pro4668Leu
ENST00000360985.7:c.13985C>T ENSP00000354254.4:p.Pro4662Leu
NM_000540.2:c.14003C>T , LRG_766t1:c.14003C>T NP_000531.2:p.Pro4668Leu
NM_001042723.1:c.13988C>T NP_001036188.1:p.Pro4663Leu
XM_006723317.1:c.13985C>T XP_006723380.1:p.Pro4662Leu
XM_006723319.1:c.13970C>T XP_006723382.1:p.Pro4657Leu
XM_011527204.1:c.14000C>T XP_011525506.1:p.Pro4667Leu
XM_011527205.1:c.13916C>T XP_011525507.1:p.Pro4639Leu
XM_006723317.2:c.13985C>T XP_006723380.1:p.Pro4662Leu
XM_006723319.2:c.13970C>T XP_006723382.1:p.Pro4657Leu
XM_011527205.2:c.13916C>T XP_011525507.1:p.Pro4639Leu
NM_000540.3:c.14003C>T MANE Select NP_000531.2:p.Pro4668Leu
NM_001042723.2:c.13988C>T NP_001036188.1:p.Pro4663Leu
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