Canonical Allele Identifier: CA507245705
Gene: RYR1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.39068560C>G (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38577920C>G , CM000681.2:g.38577920C>G GRCh38
NC_000019.9:g.39068560C>G , CM000681.1:g.39068560C>G GRCh37
NC_000019.8:g.43760400C>G NCBI36
NG_008866.1:g.149221C>G , LRG_766:g.149221C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1111C>G
ENST00000688602.1:c.2508C>G
ENST00000689936.1:c.2480C>G
ENST00000359596.8:c.14175C>G MANE Select ENSP00000352608.2:p.Val4725=
ENST00000355481.8:c.14160C>G ENSP00000347667.3:p.Val4720=
ENST00000359596.7:c.14175C>G ENSP00000352608.2:p.Val4725=
ENST00000360985.7:c.14157C>G ENSP00000354254.4:p.Val4719=
NM_000540.2:c.14175C>G , LRG_766t1:c.14175C>G NP_000531.2:p.Val4725=
NM_001042723.1:c.14160C>G NP_001036188.1:p.Val4720=
XM_006723317.1:c.14157C>G XP_006723380.1:p.Val4719=
XM_006723319.1:c.14142C>G XP_006723382.1:p.Val4714=
XM_011527204.1:c.14172C>G XP_011525506.1:p.Val4724=
XM_011527205.1:c.14088C>G XP_011525507.1:p.Val4696=
XM_006723317.2:c.14157C>G XP_006723380.1:p.Val4719=
XM_006723319.2:c.14142C>G XP_006723382.1:p.Val4714=
XM_011527205.2:c.14088C>G XP_011525507.1:p.Val4696=
NM_000540.3:c.14175C>G MANE Select NP_000531.2:p.Val4725=
NM_001042723.2:c.14160C>G NP_001036188.1:p.Val4720=
Search 100 bp 5'
Search 100 bp 3'