Canonical Allele Identifier: CA405681506

Gene: RYR1

Linked Data

• MyVariant Identifiers: chr19:g.39062888T>G (hg19) ; chr19:g.38572248T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38572248T>G , CM000681.2:g.38572248T>G	GRCh38
NC_000019.9:g.39062888T>G , CM000681.1:g.39062888T>G	GRCh37
NC_000019.8:g.43754728T>G	NCBI36
NG_008866.1:g.143549T>G , LRG_766:g.143549T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.912T>G
ENST00000688602.1:c.2309T>G
ENST00000689936.1:c.2281T>G
ENST00000359596.8:c.13976T>G MANE Select	ENSP00000352608.2:p.Ile4659Ser
ENST00000355481.8:c.13961T>G	ENSP00000347667.3:p.Ile4654Ser
ENST00000359596.7:c.13976T>G	ENSP00000352608.2:p.Ile4659Ser
ENST00000360985.7:c.13958T>G	ENSP00000354254.4:p.Ile4653Ser
NM_000540.2:c.13976T>G , LRG_766t1:c.13976T>G	NP_000531.2:p.Ile4659Ser
NM_001042723.1:c.13961T>G	NP_001036188.1:p.Ile4654Ser
XM_006723317.1:c.13958T>G	XP_006723380.1:p.Ile4653Ser
XM_006723319.1:c.13943T>G	XP_006723382.1:p.Ile4648Ser
XM_011527204.1:c.13973T>G	XP_011525506.1:p.Ile4658Ser
XM_011527205.1:c.13889T>G	XP_011525507.1:p.Ile4630Ser
XM_006723317.2:c.13958T>G	XP_006723380.1:p.Ile4653Ser
XM_006723319.2:c.13943T>G	XP_006723382.1:p.Ile4648Ser
XM_011527205.2:c.13889T>G	XP_011525507.1:p.Ile4630Ser
NM_000540.3:c.13976T>G MANE Select	NP_000531.2:p.Ile4659Ser
NM_001042723.2:c.13961T>G	NP_001036188.1:p.Ile4654Ser