Canonical Allele Identifier: CA405680152

Gene: RYR1

Linked Data

• MyVariant Identifiers: chr19:g.39062689A>T (hg19) ; chr19:g.38572049A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38572049A>T , CM000681.2:g.38572049A>T	GRCh38
NC_000019.9:g.39062689A>T , CM000681.1:g.39062689A>T	GRCh37
NC_000019.8:g.43754529A>T	NCBI36
NG_008866.1:g.143350A>T , LRG_766:g.143350A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.713A>T
ENST00000688602.1:c.2110A>T
ENST00000689936.1:c.2082A>T
ENST00000359596.8:c.13777A>T MANE Select	ENSP00000352608.2:p.Met4593Leu
ENST00000355481.8:c.13762A>T	ENSP00000347667.3:p.Met4588Leu
ENST00000359596.7:c.13777A>T	ENSP00000352608.2:p.Met4593Leu
ENST00000360985.7:c.13759A>T	ENSP00000354254.4:p.Met4587Leu
ENST00000593677.1:c.237A>T
NM_000540.2:c.13777A>T , LRG_766t1:c.13777A>T	NP_000531.2:p.Met4593Leu
NM_001042723.1:c.13762A>T	NP_001036188.1:p.Met4588Leu
XM_006723317.1:c.13759A>T	XP_006723380.1:p.Met4587Leu
XM_006723319.1:c.13744A>T	XP_006723382.1:p.Met4582Leu
XM_011527204.1:c.13774A>T	XP_011525506.1:p.Met4592Leu
XM_011527205.1:c.13690A>T	XP_011525507.1:p.Met4564Leu
XM_006723317.2:c.13759A>T	XP_006723380.1:p.Met4587Leu
XM_006723319.2:c.13744A>T	XP_006723382.1:p.Met4582Leu
XM_011527205.2:c.13690A>T	XP_011525507.1:p.Met4564Leu
NM_000540.3:c.13777A>T MANE Select	NP_000531.2:p.Met4593Leu
NM_001042723.2:c.13762A>T	NP_001036188.1:p.Met4588Leu