Canonical Allele Identifier: CA507246584

Gene: RYR1

Linked Data

• MyVariant Identifiers: chr19:g.39076594T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38585954T>C , CM000681.2:g.38585954T>C	GRCh38
NC_000019.9:g.39076594T>C , CM000681.1:g.39076594T>C	GRCh37
NC_000019.8:g.43768434T>C	NCBI36
NG_008866.1:g.157255T>C , LRG_766:g.157255T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1756T>C
ENST00000688602.1:c.3153T>C
ENST00000689936.1:c.3125T>C
ENST00000692547.1:n.213T>C
ENST00000359596.8:c.14820T>C MANE Select	ENSP00000352608.2:p.Ala4940=
ENST00000355481.8:c.14805T>C	ENSP00000347667.3:p.Ala4935=
ENST00000359596.7:c.14820T>C	ENSP00000352608.2:p.Ala4940=
ENST00000360985.7:c.14802T>C	ENSP00000354254.4:p.Ala4934=
NM_000540.2:c.14820T>C , LRG_766t1:c.14820T>C	NP_000531.2:p.Ala4940=
NM_001042723.1:c.14805T>C	NP_001036188.1:p.Ala4935=
XM_006723317.1:c.14802T>C	XP_006723380.1:p.Ala4934=
XM_006723319.1:c.14787T>C	XP_006723382.1:p.Ala4929=
XM_011527204.1:c.14817T>C	XP_011525506.1:p.Ala4939=
XM_011527205.1:c.14733T>C	XP_011525507.1:p.Ala4911=
XM_006723317.2:c.14802T>C	XP_006723380.1:p.Ala4934=
XM_006723319.2:c.14787T>C	XP_006723382.1:p.Ala4929=
XM_011527205.2:c.14733T>C	XP_011525507.1:p.Ala4911=
NM_000540.3:c.14820T>C MANE Select	NP_000531.2:p.Ala4940=
NM_001042723.2:c.14805T>C	NP_001036188.1:p.Ala4935=