Canonical Allele Identifier: CA405685120
Gene: RYR1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.39068801T>C (hg19) chr19:g.38578161T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38578161T>C , CM000681.2:g.38578161T>C GRCh38
NC_000019.9:g.39068801T>C , CM000681.1:g.39068801T>C GRCh37
NC_000019.8:g.43760641T>C NCBI36
NG_008866.1:g.149462T>C , LRG_766:g.149462T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1257T>C
ENST00000688602.1:c.2654T>C
ENST00000689936.1:c.2626T>C
ENST00000359596.8:c.14321T>C MANE Select ENSP00000352608.2:p.Val4774Ala
ENST00000355481.8:c.14306T>C ENSP00000347667.3:p.Val4769Ala
ENST00000359596.7:c.14321T>C ENSP00000352608.2:p.Val4774Ala
ENST00000360985.7:c.14303T>C ENSP00000354254.4:p.Val4768Ala
NM_000540.2:c.14321T>C , LRG_766t1:c.14321T>C NP_000531.2:p.Val4774Ala
NM_001042723.1:c.14306T>C NP_001036188.1:p.Val4769Ala
XM_006723317.1:c.14303T>C XP_006723380.1:p.Val4768Ala
XM_006723319.1:c.14288T>C XP_006723382.1:p.Val4763Ala
XM_011527204.1:c.14318T>C XP_011525506.1:p.Val4773Ala
XM_011527205.1:c.14234T>C XP_011525507.1:p.Val4745Ala
XM_006723317.2:c.14303T>C XP_006723380.1:p.Val4768Ala
XM_006723319.2:c.14288T>C XP_006723382.1:p.Val4763Ala
XM_011527205.2:c.14234T>C XP_011525507.1:p.Val4745Ala
NM_000540.3:c.14321T>C MANE Select NP_000531.2:p.Val4774Ala
NM_001042723.2:c.14306T>C NP_001036188.1:p.Val4769Ala
Search 100 bp 5'
Search 100 bp 3'