Canonical Allele Identifier: CA507355976

Gene: RYR1

Linked Data

• MyVariant Identifiers: chr19:g.39062724A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38572084A>C , CM000681.2:g.38572084A>C	GRCh38
NC_000019.9:g.39062724A>C , CM000681.1:g.39062724A>C	GRCh37
NC_000019.8:g.43754564A>C	NCBI36
NG_008866.1:g.143385A>C , LRG_766:g.143385A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000593677.2:c.748A>C
ENST00000688602.1:c.2145A>C
ENST00000689936.1:c.2117A>C
ENST00000359596.8:c.13812A>C MANE Select	ENSP00000352608.2:p.Ala4604=
ENST00000355481.8:c.13797A>C	ENSP00000347667.3:p.Ala4599=
ENST00000359596.7:c.13812A>C	ENSP00000352608.2:p.Ala4604=
ENST00000360985.7:c.13794A>C	ENSP00000354254.4:p.Ala4598=
ENST00000593677.1:c.272A>C
NM_000540.2:c.13812A>C , LRG_766t1:c.13812A>C	NP_000531.2:p.Ala4604=
NM_001042723.1:c.13797A>C	NP_001036188.1:p.Ala4599=
XM_006723317.1:c.13794A>C	XP_006723380.1:p.Ala4598=
XM_006723319.1:c.13779A>C	XP_006723382.1:p.Ala4593=
XM_011527204.1:c.13809A>C	XP_011525506.1:p.Ala4603=
XM_011527205.1:c.13725A>C	XP_011525507.1:p.Ala4575=
XM_006723317.2:c.13794A>C	XP_006723380.1:p.Ala4598=
XM_006723319.2:c.13779A>C	XP_006723382.1:p.Ala4593=
XM_011527205.2:c.13725A>C	XP_011525507.1:p.Ala4575=
NM_000540.3:c.13812A>C MANE Select	NP_000531.2:p.Ala4604=
NM_001042723.2:c.13797A>C	NP_001036188.1:p.Ala4599=