Canonical Allele Identifier: CA507246754

Gene: RYR1

Linked Data

• gnomAD v4: 19-38586189-C-T
• MyVariant Identifiers: chr19:g.39076829C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38586189C>T , CM000681.2:g.38586189C>T	GRCh38
NC_000019.9:g.39076829C>T , CM000681.1:g.39076829C>T	GRCh37
NC_000019.8:g.43768669C>T	NCBI36
NG_008866.1:g.157490C>T , LRG_766:g.157490C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1903C>T
ENST00000688602.1:c.3300C>T
ENST00000689936.1:c.3272C>T
ENST00000692547.1:n.360C>T
ENST00000359596.8:c.14967C>T MANE Select	ENSP00000352608.2:p.Tyr4989=
ENST00000355481.8:c.14952C>T	ENSP00000347667.3:p.Tyr4984=
ENST00000359596.7:c.14967C>T	ENSP00000352608.2:p.Tyr4989=
ENST00000360985.7:c.14949C>T	ENSP00000354254.4:p.Tyr4983=
NM_000540.2:c.14967C>T , LRG_766t1:c.14967C>T	NP_000531.2:p.Tyr4989=
NM_001042723.1:c.14952C>T	NP_001036188.1:p.Tyr4984=
XM_006723317.1:c.14949C>T	XP_006723380.1:p.Tyr4983=
XM_006723319.1:c.14934C>T	XP_006723382.1:p.Tyr4978=
XM_011527204.1:c.14964C>T	XP_011525506.1:p.Tyr4988=
XM_011527205.1:c.14880C>T	XP_011525507.1:p.Tyr4960=
XM_006723317.2:c.14949C>T	XP_006723380.1:p.Tyr4983=
XM_006723319.2:c.14934C>T	XP_006723382.1:p.Tyr4978=
XM_011527205.2:c.14880C>T	XP_011525507.1:p.Tyr4960=
NM_000540.3:c.14967C>T MANE Select	NP_000531.2:p.Tyr4989=
NM_001042723.2:c.14952C>T	NP_001036188.1:p.Tyr4984=