Canonical Allele Identifier: CA405685175
Gene: RYR1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.39068807A>C (hg19) chr19:g.38578167A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38578167A>C , CM000681.2:g.38578167A>C GRCh38
NC_000019.9:g.39068807A>C , CM000681.1:g.39068807A>C GRCh37
NC_000019.8:g.43760647A>C NCBI36
NG_008866.1:g.149468A>C , LRG_766:g.149468A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1263A>C
ENST00000688602.1:c.2660A>C
ENST00000689936.1:c.2632A>C
ENST00000359596.8:c.14327A>C MANE Select ENSP00000352608.2:p.Tyr4776Ser
ENST00000355481.8:c.14312A>C ENSP00000347667.3:p.Tyr4771Ser
ENST00000359596.7:c.14327A>C ENSP00000352608.2:p.Tyr4776Ser
ENST00000360985.7:c.14309A>C ENSP00000354254.4:p.Tyr4770Ser
NM_000540.2:c.14327A>C , LRG_766t1:c.14327A>C NP_000531.2:p.Tyr4776Ser
NM_001042723.1:c.14312A>C NP_001036188.1:p.Tyr4771Ser
XM_006723317.1:c.14309A>C XP_006723380.1:p.Tyr4770Ser
XM_006723319.1:c.14294A>C XP_006723382.1:p.Tyr4765Ser
XM_011527204.1:c.14324A>C XP_011525506.1:p.Tyr4775Ser
XM_011527205.1:c.14240A>C XP_011525507.1:p.Tyr4747Ser
XM_006723317.2:c.14309A>C XP_006723380.1:p.Tyr4770Ser
XM_006723319.2:c.14294A>C XP_006723382.1:p.Tyr4765Ser
XM_011527205.2:c.14240A>C XP_011525507.1:p.Tyr4747Ser
NM_000540.3:c.14327A>C MANE Select NP_000531.2:p.Tyr4776Ser
NM_001042723.2:c.14312A>C NP_001036188.1:p.Tyr4771Ser
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