Canonical Allele Identifier: CA405686938

Gene: RYR1

Linked Data

• MyVariant Identifiers: chr19:g.39070652A>T (hg19) ; chr19:g.38580012A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38580012A>T , CM000681.2:g.38580012A>T	GRCh38
NC_000019.9:g.39070652A>T , CM000681.1:g.39070652A>T	GRCh37
NC_000019.8:g.43762492A>T	NCBI36
NG_008866.1:g.151313A>T , LRG_766:g.151313A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1331A>T
ENST00000688602.1:c.2728A>T
ENST00000689936.1:c.2700A>T
ENST00000359596.8:c.14395A>T MANE Select	ENSP00000352608.2:p.Met4799Leu
ENST00000355481.8:c.14380A>T	ENSP00000347667.3:p.Met4794Leu
ENST00000359596.7:c.14395A>T	ENSP00000352608.2:p.Met4799Leu
ENST00000360985.7:c.14377A>T	ENSP00000354254.4:p.Met4793Leu
NM_000540.2:c.14395A>T , LRG_766t1:c.14395A>T	NP_000531.2:p.Met4799Leu
NM_001042723.1:c.14380A>T	NP_001036188.1:p.Met4794Leu
XM_006723317.1:c.14377A>T	XP_006723380.1:p.Met4793Leu
XM_006723319.1:c.14362A>T	XP_006723382.1:p.Met4788Leu
XM_011527204.1:c.14392A>T	XP_011525506.1:p.Met4798Leu
XM_011527205.1:c.14308A>T	XP_011525507.1:p.Met4770Leu
XM_006723317.2:c.14377A>T	XP_006723380.1:p.Met4793Leu
XM_006723319.2:c.14362A>T	XP_006723382.1:p.Met4788Leu
XM_011527205.2:c.14308A>T	XP_011525507.1:p.Met4770Leu
NM_000540.3:c.14395A>T MANE Select	NP_000531.2:p.Met4799Leu
NM_001042723.2:c.14380A>T	NP_001036188.1:p.Met4794Leu