Canonical Allele Identifier: CA405673804
Gene: RYR1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.38993557C>A (hg19) chr19:g.38502917C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38502917C>A , CM000681.2:g.38502917C>A GRCh38
NC_000019.9:g.38993557C>A , CM000681.1:g.38993557C>A GRCh37
NC_000019.8:g.43685397C>A NCBI36
NG_008866.1:g.74218C>A , LRG_766:g.74218C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.7873C>A ENSP00000471601.2:p.Arg2625Ser
ENST00000359596.8:c.7873C>A MANE Select ENSP00000352608.2:p.Arg2625Ser
ENST00000355481.8:c.7873C>A ENSP00000347667.3:p.Arg2625Ser
ENST00000359596.7:c.7873C>A ENSP00000352608.2:p.Arg2625Ser
ENST00000360985.7:c.7870C>A ENSP00000354254.4:p.Arg2624Ser
ENST00000594335.5:c.1325C>A
NM_000540.2:c.7873C>A , LRG_766t1:c.7873C>A NP_000531.2:p.Arg2625Ser
NM_001042723.1:c.7873C>A NP_001036188.1:p.Arg2625Ser
XM_006723317.1:c.7873C>A XP_006723380.1:p.Arg2625Ser
XM_006723319.1:c.7873C>A XP_006723382.1:p.Arg2625Ser
XM_011527204.1:c.7870C>A XP_011525506.1:p.Arg2624Ser
XM_011527205.1:c.7873C>A XP_011525507.1:p.Arg2625Ser
XM_006723317.2:c.7873C>A XP_006723380.1:p.Arg2625Ser
XM_006723319.2:c.7873C>A XP_006723382.1:p.Arg2625Ser
XM_011527205.2:c.7873C>A XP_011525507.1:p.Arg2625Ser
XR_001753735.1:n.7956C>A
NM_000540.3:c.7873C>A MANE Select NP_000531.2:p.Arg2625Ser
NM_001042723.2:c.7873C>A NP_001036188.1:p.Arg2625Ser
Search 100 bp 5'
Search 100 bp 3'