Canonical Allele Identifier: CA405673720
Gene: RYR1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38565481A>T , CM000681.2:g.38565481A>T GRCh38
NC_000019.9:g.39056121A>T , CM000681.1:g.39056121A>T GRCh37
NC_000019.8:g.43747961A>T NCBI36
NG_008866.1:g.136782A>T , LRG_766:g.136782A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.83A>T
ENST00000688602.1:c.1557A>T
ENST00000689936.1:c.1539A>T
ENST00000359596.8:c.13147A>T MANE Select ENSP00000352608.2:p.Met4383Leu
ENST00000355481.8:c.13132A>T ENSP00000347667.3:p.Met4378Leu
ENST00000359596.7:c.13147A>T ENSP00000352608.2:p.Met4383Leu
ENST00000360985.7:c.13129A>T ENSP00000354254.4:p.Met4377Leu
NM_000540.2:c.13147A>T , LRG_766t1:c.13147A>T NP_000531.2:p.Met4383Leu
NM_001042723.1:c.13132A>T NP_001036188.1:p.Met4378Leu
XM_006723317.1:c.13129A>T XP_006723380.1:p.Met4377Leu
XM_006723319.1:c.13114A>T XP_006723382.1:p.Met4372Leu
XM_011527204.1:c.13144A>T XP_011525506.1:p.Met4382Leu
XM_011527205.1:c.13147A>T XP_011525507.1:p.Met4383Leu
XM_006723317.2:c.13129A>T XP_006723380.1:p.Met4377Leu
XM_006723319.2:c.13114A>T XP_006723382.1:p.Met4372Leu
XM_011527205.2:c.13147A>T XP_011525507.1:p.Met4383Leu
NM_000540.3:c.13147A>T MANE Select NP_000531.2:p.Met4383Leu
NM_001042723.2:c.13132A>T NP_001036188.1:p.Met4378Leu