Canonical Allele Identifier: CA505661771

Gene: CACNA1A

Linked Data

• ClinVar Variation Id: 1627842
• ClinVar RCV Id: RCV002114292
• dbSNP Id: rs1229065392
• gnomAD v2: 19-13482560-T-C
• gnomAD v3: 19-13371746-T-C
• gnomAD v4: 19-13371746-T-C
• MyVariant Identifiers: chr19:g.13482560T>C (hg19) ; chr19:g.13371746T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13371746T>C , CM000681.2:g.13371746T>C	GRCh38
NC_000019.9:g.13482560T>C , CM000681.1:g.13482560T>C	GRCh37
NC_000019.8:g.13343560T>C	NCBI36
NG_011569.1:g.139715A>G , LRG_7:g.139715A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000360228.11:c.573A>G MANE Select	ENSP00000353362.5:p.Leu191=
ENST00000573710.7:c.573A>G	ENSP00000460092.3:p.Leu191=
ENST00000593160.2:n.288A>G
ENST00000635727.1:c.573A>G	ENSP00000490001.1:p.Leu191=
ENST00000635895.1:c.573A>G	ENSP00000490323.1:p.Leu191=
ENST00000636012.1:c.573A>G	ENSP00000490223.1:p.Leu191=
ENST00000636389.1:c.573A>G	ENSP00000489992.1:p.Leu191=
ENST00000636549.1:c.573A>G	ENSP00000490578.1:p.Leu191=
ENST00000636966.1:n.461A>G
ENST00000637276.1:c.573A>G	ENSP00000489777.1:p.Leu191=
ENST00000637432.1:c.573A>G	ENSP00000490617.1:p.Leu191=
ENST00000637736.1:c.432A>G	ENSP00000489861.1:p.Leu144=
ENST00000637769.1:c.573A>G	ENSP00000489778.1:p.Leu191=
ENST00000637927.1:c.573A>G	ENSP00000489715.1:p.Leu191=
ENST00000637966.1:n.426A>G
ENST00000637981.1:n.391A>G
ENST00000638009.2:c.573A>G	ENSP00000489913.1:p.Leu191=
ENST00000638029.1:c.573A>G	ENSP00000489829.1:p.Leu191=
ENST00000664864.1:c.768A>G	ENSP00000499449.1:p.Leu256=
ENST00000360228.9:c.573A>G	ENSP00000353362.5:p.Leu191=
ENST00000573710.6:c.573A>G	ENSP00000460092.2:p.Leu191=
ENST00000614285.4:c.573A>G	ENSP00000479983.1:p.Leu191=
NM_000068.3:c.573A>G	NP_000059.3:p.Leu191=
NM_001127221.1:c.573A>G , LRG_7t1:c.573A>G	NP_001120693.1:p.Leu191=
NM_001127222.1:c.573A>G	NP_001120694.1:p.Leu191=
NM_001174080.1:c.573A>G	NP_001167551.1:p.Leu191=
NM_023035.2:c.573A>G	NP_075461.2:p.Leu191=
NM_000068.4:c.573A>G	NP_000059.3:p.Leu191=
NM_001127222.2:c.573A>G MANE Select	NP_001120694.1:p.Leu191=
NM_001174080.2:c.573A>G	NP_001167551.1:p.Leu191=
NM_023035.3:c.573A>G	NP_075461.2:p.Leu191=
NM_001127221.2:c.573A>G	NP_001120693.1:p.Leu191=