Canonical Allele Identifier: CA631861166

Gene: CACNA1A

Linked Data

• dbSNP Id: rs1370376657
• gnomAD v2: 19-13345865-G-A
• gnomAD v3: 19-13235051-G-A
• gnomAD v4: 19-13235051-G-A
• MyVariant Identifiers: chr19:g.13345865G>A (hg19) ; chr19:g.13235051G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13235051G>A , CM000681.2:g.13235051G>A	GRCh38
NC_000019.9:g.13345865G>A , CM000681.1:g.13345865G>A	GRCh37
NC_000019.8:g.13206865G>A	NCBI36
NG_011569.1:g.276410C>T , LRG_7:g.276410C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000360228.11:c.5134-15C>T MANE Select	ENSP00000353362.5:n.5134-15C>T
ENST00000573710.7:c.5140-15C>T	ENSP00000460092.3:n.5140-15C>T
ENST00000573891.6:c.553-15C>T
ENST00000574822.6:n.358-15C>T
ENST00000585802.6:c.295-15C>T	ENSP00000465598.2:n.295-15C>T
ENST00000593267.2:n.339-15C>T
ENST00000635727.1:c.5137-15C>T	ENSP00000490001.1:n.5137-15C>T
ENST00000635742.1:n.1123-15C>T
ENST00000635895.1:c.5137-15C>T	ENSP00000490323.1:n.5137-15C>T
ENST00000636012.1:c.5137-15C>T	ENSP00000490223.1:n.5137-15C>T
ENST00000636058.1:c.449-15C>T
ENST00000636389.1:c.5137-15C>T	ENSP00000489992.1:n.5137-15C>T
ENST00000636473.1:c.229-15C>T	ENSP00000490173.1:n.229-15C>T
ENST00000636549.1:c.5143-15C>T	ENSP00000490578.1:n.5143-15C>T
ENST00000637276.1:c.5137-15C>T	ENSP00000489777.1:n.5137-15C>T
ENST00000637297.1:c.430-15C>T	ENSP00000489692.1:n.430-15C>T
ENST00000637432.1:c.5152-15C>T	ENSP00000490617.1:n.5152-15C>T
ENST00000637736.1:c.4996-15C>T	ENSP00000489861.1:n.4996-15C>T
ENST00000637769.1:c.5137-15C>T	ENSP00000489778.1:n.5137-15C>T
ENST00000637777.1:c.328-15C>T
ENST00000637809.1:n.527-15C>T
ENST00000637819.1:c.538-15C>T	ENSP00000490686.1:n.538-15C>T
ENST00000637832.1:n.128-15C>T
ENST00000637927.1:c.5140-15C>T	ENSP00000489715.1:n.5140-15C>T
ENST00000638009.2:c.5137-15C>T	ENSP00000489913.1:n.5137-15C>T
ENST00000638029.1:c.5152-15C>T	ENSP00000489829.1:n.5152-15C>T
ENST00000664864.1:c.5338-15C>T	ENSP00000499449.1:n.5338-15C>T
ENST00000360228.9:c.5134-15C>T	ENSP00000353362.5:n.5134-15C>T
ENST00000573710.6:c.5137-15C>T	ENSP00000460092.2:n.5137-15C>T
ENST00000573891.5:c.553-15C>T
ENST00000574822.5:n.358-15C>T
ENST00000585802.5:c.1192-15C>T	ENSP00000465598.1:n.1192-15C>T
ENST00000587525.5:c.595-15C>T	ENSP00000467729.1:n.595-15C>T
ENST00000593267.1:n.339-15C>T
ENST00000614285.4:c.5152-15C>T	ENSP00000479983.1:n.5152-15C>T
NM_000068.3:c.5152-15C>T	NP_000059.3:n.5152-15C>T
NM_001127221.1:c.5137-15C>T , LRG_7t1:c.5137-15C>T	NP_001120693.1:n.5137-15C>T
NM_001127222.1:c.5134-15C>T	NP_001120694.1:n.5134-15C>T
NM_001174080.1:c.5143-15C>T	NP_001167551.1:n.5143-15C>T
NM_023035.2:c.5152-15C>T	NP_075461.2:n.5152-15C>T
NM_000068.4:c.5152-15C>T	NP_000059.3:n.5152-15C>T
NM_001127222.2:c.5134-15C>T MANE Select	NP_001120694.1:n.5134-15C>T
NM_001174080.2:c.5143-15C>T	NP_001167551.1:n.5143-15C>T
NM_023035.3:c.5152-15C>T	NP_075461.2:n.5152-15C>T
NM_001127221.2:c.5137-15C>T	NP_001120693.1:n.5137-15C>T