Canonical Allele Identifier: CA405685345
Gene: RYR1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38578188T>C , CM000681.2:g.38578188T>C GRCh38
NC_000019.9:g.39068828T>C , CM000681.1:g.39068828T>C GRCh37
NC_000019.8:g.43760668T>C NCBI36
NG_008866.1:g.149489T>C , LRG_766:g.149489T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1284T>C
ENST00000688602.1:c.2681T>C
ENST00000689936.1:c.2653T>C
ENST00000359596.8:c.14348T>C MANE Select ENSP00000352608.2:p.Val4783Ala
ENST00000355481.8:c.14333T>C ENSP00000347667.3:p.Val4778Ala
ENST00000359596.7:c.14348T>C ENSP00000352608.2:p.Val4783Ala
ENST00000360985.7:c.14330T>C ENSP00000354254.4:p.Val4777Ala
NM_000540.2:c.14348T>C , LRG_766t1:c.14348T>C NP_000531.2:p.Val4783Ala
NM_001042723.1:c.14333T>C NP_001036188.1:p.Val4778Ala
XM_006723317.1:c.14330T>C XP_006723380.1:p.Val4777Ala
XM_006723319.1:c.14315T>C XP_006723382.1:p.Val4772Ala
XM_011527204.1:c.14345T>C XP_011525506.1:p.Val4782Ala
XM_011527205.1:c.14261T>C XP_011525507.1:p.Val4754Ala
XM_006723317.2:c.14330T>C XP_006723380.1:p.Val4777Ala
XM_006723319.2:c.14315T>C XP_006723382.1:p.Val4772Ala
XM_011527205.2:c.14261T>C XP_011525507.1:p.Val4754Ala
NM_000540.3:c.14348T>C MANE Select NP_000531.2:p.Val4783Ala
NM_001042723.2:c.14333T>C NP_001036188.1:p.Val4778Ala