Canonical Allele Identifier: CA405673460

Gene: RYR1

Linked Data

• dbSNP Id: rs1320250359
• gnomAD v2: 19-39056076-G-T
• gnomAD v4: 19-38565436-G-T
• MyVariant Identifiers: chr19:g.39056076G>T (hg19) ; chr19:g.38565436G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565436G>T , CM000681.2:g.38565436G>T	GRCh38
NC_000019.9:g.39056076G>T , CM000681.1:g.39056076G>T	GRCh37
NC_000019.8:g.43747916G>T	NCBI36
NG_008866.1:g.136737G>T , LRG_766:g.136737G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.38G>T
ENST00000688602.1:c.1512G>T
ENST00000689936.1:c.1494G>T
ENST00000359596.8:c.13102G>T MANE Select	ENSP00000352608.2:p.Val4368Leu
ENST00000355481.8:c.13087G>T	ENSP00000347667.3:p.Val4363Leu
ENST00000359596.7:c.13102G>T	ENSP00000352608.2:p.Val4368Leu
ENST00000360985.7:c.13084G>T	ENSP00000354254.4:p.Val4362Leu
NM_000540.2:c.13102G>T , LRG_766t1:c.13102G>T	NP_000531.2:p.Val4368Leu
NM_001042723.1:c.13087G>T	NP_001036188.1:p.Val4363Leu
XM_006723317.1:c.13084G>T	XP_006723380.1:p.Val4362Leu
XM_006723319.1:c.13069G>T	XP_006723382.1:p.Val4357Leu
XM_011527204.1:c.13099G>T	XP_011525506.1:p.Val4367Leu
XM_011527205.1:c.13102G>T	XP_011525507.1:p.Val4368Leu
XM_006723317.2:c.13084G>T	XP_006723380.1:p.Val4362Leu
XM_006723319.2:c.13069G>T	XP_006723382.1:p.Val4357Leu
XM_011527205.2:c.13102G>T	XP_011525507.1:p.Val4368Leu
NM_000540.3:c.13102G>T MANE Select	NP_000531.2:p.Val4368Leu
NM_001042723.2:c.13087G>T	NP_001036188.1:p.Val4363Leu