Canonical Allele Identifier: CA507245175

Gene: RYR1

Linked Data

• MyVariant Identifiers: chr19:g.39063912G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38573272G>T , CM000681.2:g.38573272G>T	GRCh38
NC_000019.9:g.39063912G>T , CM000681.1:g.39063912G>T	GRCh37
NC_000019.8:g.43755752G>T	NCBI36
NG_008866.1:g.144573G>T , LRG_766:g.144573G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1030G>T
ENST00000688602.1:c.2427G>T
ENST00000689936.1:c.2399G>T
ENST00000359596.8:c.14094G>T MANE Select	ENSP00000352608.2:p.Val4698=
ENST00000355481.8:c.14079G>T	ENSP00000347667.3:p.Val4693=
ENST00000359596.7:c.14094G>T	ENSP00000352608.2:p.Val4698=
ENST00000360985.7:c.14076G>T	ENSP00000354254.4:p.Val4692=
NM_000540.2:c.14094G>T , LRG_766t1:c.14094G>T	NP_000531.2:p.Val4698=
NM_001042723.1:c.14079G>T	NP_001036188.1:p.Val4693=
XM_006723317.1:c.14076G>T	XP_006723380.1:p.Val4692=
XM_006723319.1:c.14061G>T	XP_006723382.1:p.Val4687=
XM_011527204.1:c.14091G>T	XP_011525506.1:p.Val4697=
XM_011527205.1:c.14007G>T	XP_011525507.1:p.Val4669=
XM_006723317.2:c.14076G>T	XP_006723380.1:p.Val4692=
XM_006723319.2:c.14061G>T	XP_006723382.1:p.Val4687=
XM_011527205.2:c.14007G>T	XP_011525507.1:p.Val4669=
NM_000540.3:c.14094G>T MANE Select	NP_000531.2:p.Val4698=
NM_001042723.2:c.14079G>T	NP_001036188.1:p.Val4693=