Canonical Allele Identifier: CA507246653

Gene: RYR1

Linked Data

• gnomAD v4: 19-38586159-C-T
• MyVariant Identifiers: chr19:g.39076799C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38586159C>T , CM000681.2:g.38586159C>T	GRCh38
NC_000019.9:g.39076799C>T , CM000681.1:g.39076799C>T	GRCh37
NC_000019.8:g.43768639C>T	NCBI36
NG_008866.1:g.157460C>T , LRG_766:g.157460C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1873C>T
ENST00000688602.1:c.3270C>T
ENST00000689936.1:c.3242C>T
ENST00000692547.1:n.330C>T
ENST00000359596.8:c.14937C>T MANE Select	ENSP00000352608.2:p.His4979=
ENST00000355481.8:c.14922C>T	ENSP00000347667.3:p.His4974=
ENST00000359596.7:c.14937C>T	ENSP00000352608.2:p.His4979=
ENST00000360985.7:c.14919C>T	ENSP00000354254.4:p.His4973=
NM_000540.2:c.14937C>T , LRG_766t1:c.14937C>T	NP_000531.2:p.His4979=
NM_001042723.1:c.14922C>T	NP_001036188.1:p.His4974=
XM_006723317.1:c.14919C>T	XP_006723380.1:p.His4973=
XM_006723319.1:c.14904C>T	XP_006723382.1:p.His4968=
XM_011527204.1:c.14934C>T	XP_011525506.1:p.His4978=
XM_011527205.1:c.14850C>T	XP_011525507.1:p.His4950=
XM_006723317.2:c.14919C>T	XP_006723380.1:p.His4973=
XM_006723319.2:c.14904C>T	XP_006723382.1:p.His4968=
XM_011527205.2:c.14850C>T	XP_011525507.1:p.His4950=
NM_000540.3:c.14937C>T MANE Select	NP_000531.2:p.His4979=
NM_001042723.2:c.14922C>T	NP_001036188.1:p.His4974=