Canonical Allele Identifier: CA404334132

Gene: CACNA1A

Linked Data

• ClinVar Variation Id: 426309
• ClinVar RCV Id: RCV000489364 ; RCV002481551
• dbSNP Id: rs1085307557
• MyVariant Identifiers: chr19:g.13325107C>T (hg19) ; chr19:g.13214293C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13214293C>T , CM000681.2:g.13214293C>T	GRCh38
NC_000019.9:g.13325107C>T , CM000681.1:g.13325107C>T	GRCh37
NC_000019.8:g.13186107C>T	NCBI36
NG_011569.1:g.297168G>A , LRG_7:g.297168G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360228.11:c.5880G>A MANE Select	ENSP00000353362.5:p.Met1960Ile
ENST00000573710.7:c.5886G>A	ENSP00000460092.3:p.Met1962Ile
ENST00000585802.6:c.1041G>A	ENSP00000465598.2:p.Met347Ile
ENST00000635727.1:c.5883G>A	ENSP00000490001.1:p.Met1961Ile
ENST00000635895.1:c.5883G>A	ENSP00000490323.1:p.Met1961Ile
ENST00000635988.1:n.2038G>A
ENST00000636012.1:c.5883G>A	ENSP00000490223.1:p.Met1961Ile
ENST00000636074.1:n.942G>A
ENST00000636389.1:c.5883G>A	ENSP00000489992.1:p.Met1961Ile
ENST00000636473.1:c.750G>A	ENSP00000490173.1:p.Met250Ile
ENST00000636549.1:c.5889G>A	ENSP00000490578.1:p.Met1963Ile
ENST00000636610.1:n.797G>A
ENST00000636768.1:c.410G>A	ENSP00000490190.1:n.410G>A
ENST00000637276.1:c.5883G>A	ENSP00000489777.1:p.Met1961Ile
ENST00000637432.1:c.5898G>A	ENSP00000490617.1:p.Met1966Ile
ENST00000637736.1:c.5742G>A	ENSP00000489861.1:p.Met1914Ile
ENST00000637769.1:c.5883G>A	ENSP00000489778.1:p.Met1961Ile
ENST00000637819.1:c.1284G>A	ENSP00000490686.1:p.Met428Ile
ENST00000637927.1:c.5886G>A	ENSP00000489715.1:p.Met1962Ile
ENST00000638009.2:c.5883G>A	ENSP00000489913.1:p.Met1961Ile
ENST00000638029.1:c.5898G>A	ENSP00000489829.1:p.Met1966Ile
ENST00000638114.1:n.92G>A
ENST00000664864.1:c.6084G>A	ENSP00000499449.1:p.Met2028Ile
ENST00000360228.9:c.5880G>A	ENSP00000353362.5:p.Met1960Ile
ENST00000573710.6:c.5883G>A	ENSP00000460092.2:p.Met1961Ile
ENST00000585802.5:c.1938G>A	ENSP00000465598.1:p.Met646Ile
ENST00000587525.5:c.1341G>A	ENSP00000467729.1:p.Met447Ile
ENST00000614285.4:c.5898G>A	ENSP00000479983.1:p.Met1966Ile
NM_000068.3:c.5898G>A	NP_000059.3:p.Met1966Ile
NM_001127221.1:c.5883G>A , LRG_7t1:c.5883G>A	NP_001120693.1:p.Met1961Ile
NM_001127222.1:c.5880G>A	NP_001120694.1:p.Met1960Ile
NM_001174080.1:c.5889G>A	NP_001167551.1:p.Met1963Ile
NM_023035.2:c.5898G>A	NP_075461.2:p.Met1966Ile
NM_000068.4:c.5898G>A	NP_000059.3:p.Met1966Ile
NM_001127222.2:c.5880G>A MANE Select	NP_001120694.1:p.Met1960Ile
NM_001174080.2:c.5889G>A	NP_001167551.1:p.Met1963Ile
NM_023035.3:c.5898G>A	NP_075461.2:p.Met1966Ile
NM_001127221.2:c.5883G>A	NP_001120693.1:p.Met1961Ile