Canonical Allele Identifier: CA404337083

Gene: CACNA1A

Linked Data

• gnomAD v4: 19-13235714-A-C
• MyVariant Identifiers: chr19:g.13346528A>C (hg19) ; chr19:g.13235714A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13235714A>C , CM000681.2:g.13235714A>C	GRCh38
NC_000019.9:g.13346528A>C , CM000681.1:g.13346528A>C	GRCh37
NC_000019.8:g.13207528A>C	NCBI36
NG_011569.1:g.275747T>G , LRG_7:g.275747T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000360228.11:c.4967T>G MANE Select	ENSP00000353362.5:p.Leu1656Arg
ENST00000573710.7:c.4973T>G	ENSP00000460092.3:p.Leu1658Arg
ENST00000573891.6:c.386T>G
ENST00000574822.6:n.191T>G
ENST00000585802.6:c.128T>G	ENSP00000465598.2:p.Leu43Arg
ENST00000593267.2:n.172T>G
ENST00000635727.1:c.4970T>G	ENSP00000490001.1:p.Leu1657Arg
ENST00000635742.1:n.956T>G
ENST00000635895.1:c.4970T>G	ENSP00000490323.1:p.Leu1657Arg
ENST00000636012.1:c.4970T>G	ENSP00000490223.1:p.Leu1657Arg
ENST00000636058.1:c.282T>G
ENST00000636389.1:c.4970T>G	ENSP00000489992.1:p.Leu1657Arg
ENST00000636473.1:c.128T>G	ENSP00000490173.1:p.Leu43Arg
ENST00000636549.1:c.4976T>G	ENSP00000490578.1:p.Leu1659Arg
ENST00000637276.1:c.4970T>G	ENSP00000489777.1:p.Leu1657Arg
ENST00000637297.1:c.263T>G	ENSP00000489692.1:p.Leu88Arg
ENST00000637432.1:c.4985T>G	ENSP00000490617.1:p.Leu1662Arg
ENST00000637736.1:c.4829T>G	ENSP00000489861.1:p.Leu1610Arg
ENST00000637769.1:c.4970T>G	ENSP00000489778.1:p.Leu1657Arg
ENST00000637777.1:c.227T>G
ENST00000637809.1:n.360T>G
ENST00000637819.1:c.371T>G	ENSP00000490686.1:p.Leu124Arg
ENST00000637927.1:c.4973T>G	ENSP00000489715.1:p.Leu1658Arg
ENST00000638009.2:c.4970T>G	ENSP00000489913.1:p.Leu1657Arg
ENST00000638029.1:c.4985T>G	ENSP00000489829.1:p.Leu1662Arg
ENST00000664864.1:c.5171T>G	ENSP00000499449.1:p.Leu1724Arg
ENST00000360228.9:c.4967T>G	ENSP00000353362.5:p.Leu1656Arg
ENST00000573710.6:c.4970T>G	ENSP00000460092.2:p.Leu1657Arg
ENST00000573891.5:c.386T>G
ENST00000574822.5:n.191T>G
ENST00000585802.5:c.1025T>G	ENSP00000465598.1:p.Leu342Arg
ENST00000587525.5:c.428T>G	ENSP00000467729.1:p.Leu143Arg
ENST00000593267.1:n.172T>G
ENST00000614285.4:c.4985T>G	ENSP00000479983.1:p.Leu1662Arg
NM_000068.3:c.4985T>G	NP_000059.3:p.Leu1662Arg
NM_001127221.1:c.4970T>G , LRG_7t1:c.4970T>G	NP_001120693.1:p.Leu1657Arg
NM_001127222.1:c.4967T>G	NP_001120694.1:p.Leu1656Arg
NM_001174080.1:c.4976T>G	NP_001167551.1:p.Leu1659Arg
NM_023035.2:c.4985T>G	NP_075461.2:p.Leu1662Arg
NM_000068.4:c.4985T>G	NP_000059.3:p.Leu1662Arg
NM_001127222.2:c.4967T>G MANE Select	NP_001120694.1:p.Leu1656Arg
NM_001174080.2:c.4976T>G	NP_001167551.1:p.Leu1659Arg
NM_023035.3:c.4985T>G	NP_075461.2:p.Leu1662Arg
NM_001127221.2:c.4970T>G	NP_001120693.1:p.Leu1657Arg