Canonical Allele Identifier: CA405681499

Gene: RYR1

Linked Data

• MyVariant Identifiers: chr19:g.39062887A>T (hg19) ; chr19:g.38572247A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38572247A>T , CM000681.2:g.38572247A>T	GRCh38
NC_000019.9:g.39062887A>T , CM000681.1:g.39062887A>T	GRCh37
NC_000019.8:g.43754727A>T	NCBI36
NG_008866.1:g.143548A>T , LRG_766:g.143548A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.911A>T
ENST00000688602.1:c.2308A>T
ENST00000689936.1:c.2280A>T
ENST00000359596.8:c.13975A>T MANE Select	ENSP00000352608.2:p.Ile4659Phe
ENST00000355481.8:c.13960A>T	ENSP00000347667.3:p.Ile4654Phe
ENST00000359596.7:c.13975A>T	ENSP00000352608.2:p.Ile4659Phe
ENST00000360985.7:c.13957A>T	ENSP00000354254.4:p.Ile4653Phe
NM_000540.2:c.13975A>T , LRG_766t1:c.13975A>T	NP_000531.2:p.Ile4659Phe
NM_001042723.1:c.13960A>T	NP_001036188.1:p.Ile4654Phe
XM_006723317.1:c.13957A>T	XP_006723380.1:p.Ile4653Phe
XM_006723319.1:c.13942A>T	XP_006723382.1:p.Ile4648Phe
XM_011527204.1:c.13972A>T	XP_011525506.1:p.Ile4658Phe
XM_011527205.1:c.13888A>T	XP_011525507.1:p.Ile4630Phe
XM_006723317.2:c.13957A>T	XP_006723380.1:p.Ile4653Phe
XM_006723319.2:c.13942A>T	XP_006723382.1:p.Ile4648Phe
XM_011527205.2:c.13888A>T	XP_011525507.1:p.Ile4630Phe
NM_000540.3:c.13975A>T MANE Select	NP_000531.2:p.Ile4659Phe
NM_001042723.2:c.13960A>T	NP_001036188.1:p.Ile4654Phe