Canonical Allele Identifier: CA507245198

Gene: RYR1

Linked Data

• gnomAD v4: 19-38573299-C-T
• MyVariant Identifiers: chr19:g.39063939C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38573299C>T , CM000681.2:g.38573299C>T	GRCh38
NC_000019.9:g.39063939C>T , CM000681.1:g.39063939C>T	GRCh37
NC_000019.8:g.43755779C>T	NCBI36
NG_008866.1:g.144600C>T , LRG_766:g.144600C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1057C>T
ENST00000688602.1:c.2454C>T
ENST00000689936.1:c.2426C>T
ENST00000359596.8:c.14121C>T MANE Select	ENSP00000352608.2:p.Leu4707=
ENST00000355481.8:c.14106C>T	ENSP00000347667.3:p.Leu4702=
ENST00000359596.7:c.14121C>T	ENSP00000352608.2:p.Leu4707=
ENST00000360985.7:c.14103C>T	ENSP00000354254.4:p.Leu4701=
NM_000540.2:c.14121C>T , LRG_766t1:c.14121C>T	NP_000531.2:p.Leu4707=
NM_001042723.1:c.14106C>T	NP_001036188.1:p.Leu4702=
XM_006723317.1:c.14103C>T	XP_006723380.1:p.Leu4701=
XM_006723319.1:c.14088C>T	XP_006723382.1:p.Leu4696=
XM_011527204.1:c.14118C>T	XP_011525506.1:p.Leu4706=
XM_011527205.1:c.14034C>T	XP_011525507.1:p.Leu4678=
XM_006723317.2:c.14103C>T	XP_006723380.1:p.Leu4701=
XM_006723319.2:c.14088C>T	XP_006723382.1:p.Leu4696=
XM_011527205.2:c.14034C>T	XP_011525507.1:p.Leu4678=
NM_000540.3:c.14121C>T MANE Select	NP_000531.2:p.Leu4707=
NM_001042723.2:c.14106C>T	NP_001036188.1:p.Leu4702=