Canonical Allele Identifier: CA404342614

Gene: CACNA1A

Linked Data

• MyVariant Identifiers: chr19:g.13409608G>T (hg19) ; chr19:g.13298794G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13298794G>T , CM000681.2:g.13298794G>T	GRCh38
NC_000019.9:g.13409608G>T , CM000681.1:g.13409608G>T	GRCh37
NC_000019.8:g.13270608G>T	NCBI36
NG_011569.1:g.212667C>A , LRG_7:g.212667C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360228.11:c.2839C>A MANE Select	ENSP00000353362.5:p.Pro947Thr
ENST00000573710.7:c.2845C>A	ENSP00000460092.3:p.Pro949Thr
ENST00000635727.1:c.2842C>A	ENSP00000490001.1:p.Pro948Thr
ENST00000635895.1:c.2842C>A	ENSP00000490323.1:p.Pro948Thr
ENST00000636012.1:c.2842C>A	ENSP00000490223.1:p.Pro948Thr
ENST00000636389.1:c.2842C>A	ENSP00000489992.1:p.Pro948Thr
ENST00000636549.1:c.2842C>A	ENSP00000490578.1:p.Pro948Thr
ENST00000637276.1:c.2842C>A	ENSP00000489777.1:p.Pro948Thr
ENST00000637432.1:c.2851C>A	ENSP00000490617.1:p.Pro951Thr
ENST00000637736.1:c.2701C>A	ENSP00000489861.1:p.Pro901Thr
ENST00000637769.1:c.2842C>A	ENSP00000489778.1:p.Pro948Thr
ENST00000637927.1:c.2845C>A	ENSP00000489715.1:p.Pro949Thr
ENST00000638009.2:c.2842C>A	ENSP00000489913.1:p.Pro948Thr
ENST00000638029.1:c.2851C>A	ENSP00000489829.1:p.Pro951Thr
ENST00000664864.1:c.3037C>A	ENSP00000499449.1:p.Pro1013Thr
ENST00000360228.9:c.2839C>A	ENSP00000353362.5:p.Pro947Thr
ENST00000573710.6:c.2842C>A	ENSP00000460092.2:p.Pro948Thr
ENST00000614285.4:c.2851C>A	ENSP00000479983.1:p.Pro951Thr
NM_000068.3:c.2851C>A	NP_000059.3:p.Pro951Thr
NM_001127221.1:c.2842C>A , LRG_7t1:c.2842C>A	NP_001120693.1:p.Pro948Thr
NM_001127222.1:c.2839C>A	NP_001120694.1:p.Pro947Thr
NM_001174080.1:c.2842C>A	NP_001167551.1:p.Pro948Thr
NM_023035.2:c.2851C>A	NP_075461.2:p.Pro951Thr
NM_000068.4:c.2851C>A	NP_000059.3:p.Pro951Thr
NM_001127222.2:c.2839C>A MANE Select	NP_001120694.1:p.Pro947Thr
NM_001174080.2:c.2842C>A	NP_001167551.1:p.Pro948Thr
NM_023035.3:c.2851C>A	NP_075461.2:p.Pro951Thr
NM_001127221.2:c.2842C>A	NP_001120693.1:p.Pro948Thr