Canonical Allele Identifier: CA405685273
Gene: RYR1 HGNC NCBI

Linked Data

COSMIC: COSM4077819
MyVariant Identifiers: chr19:g.39068820G>C (hg19) chr19:g.38578180G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38578180G>C , CM000681.2:g.38578180G>C GRCh38
NC_000019.9:g.39068820G>C , CM000681.1:g.39068820G>C GRCh37
NC_000019.8:g.43760660G>C NCBI36
NG_008866.1:g.149481G>C , LRG_766:g.149481G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1276G>C
ENST00000688602.1:c.2673G>C
ENST00000689936.1:c.2645G>C
ENST00000359596.8:c.14340G>C MANE Select ENSP00000352608.2:p.Lys4780Asn
ENST00000355481.8:c.14325G>C ENSP00000347667.3:p.Lys4775Asn
ENST00000359596.7:c.14340G>C ENSP00000352608.2:p.Lys4780Asn
ENST00000360985.7:c.14322G>C ENSP00000354254.4:p.Lys4774Asn
NM_000540.2:c.14340G>C , LRG_766t1:c.14340G>C NP_000531.2:p.Lys4780Asn
NM_001042723.1:c.14325G>C NP_001036188.1:p.Lys4775Asn
XM_006723317.1:c.14322G>C XP_006723380.1:p.Lys4774Asn
XM_006723319.1:c.14307G>C XP_006723382.1:p.Lys4769Asn
XM_011527204.1:c.14337G>C XP_011525506.1:p.Lys4779Asn
XM_011527205.1:c.14253G>C XP_011525507.1:p.Lys4751Asn
XM_006723317.2:c.14322G>C XP_006723380.1:p.Lys4774Asn
XM_006723319.2:c.14307G>C XP_006723382.1:p.Lys4769Asn
XM_011527205.2:c.14253G>C XP_011525507.1:p.Lys4751Asn
NM_000540.3:c.14340G>C MANE Select NP_000531.2:p.Lys4780Asn
NM_001042723.2:c.14325G>C NP_001036188.1:p.Lys4775Asn
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