Canonical Allele Identifier: CA404335810

Gene: CACNA1A

Linked Data

• MyVariant Identifiers: chr19:g.13346028T>G (hg19) ; chr19:g.13235214T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13235214T>G , CM000681.2:g.13235214T>G	GRCh38
NC_000019.9:g.13346028T>G , CM000681.1:g.13346028T>G	GRCh37
NC_000019.8:g.13207028T>G	NCBI36
NG_011569.1:g.276247A>C , LRG_7:g.276247A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000360228.11:c.5128A>C MANE Select	ENSP00000353362.5:p.Met1710Leu
ENST00000573710.7:c.5134A>C	ENSP00000460092.3:p.Met1712Leu
ENST00000573891.6:c.547A>C
ENST00000574822.6:n.352A>C
ENST00000585802.6:c.289A>C	ENSP00000465598.2:p.Met97Leu
ENST00000593267.2:n.333A>C
ENST00000635727.1:c.5131A>C	ENSP00000490001.1:p.Met1711Leu
ENST00000635742.1:n.1117A>C
ENST00000635895.1:c.5131A>C	ENSP00000490323.1:p.Met1711Leu
ENST00000636012.1:c.5131A>C	ENSP00000490223.1:p.Met1711Leu
ENST00000636058.1:c.443A>C
ENST00000636389.1:c.5131A>C	ENSP00000489992.1:p.Met1711Leu
ENST00000636473.1:c.229-178A>C	ENSP00000490173.1:n.229-178A>C
ENST00000636549.1:c.5137A>C	ENSP00000490578.1:p.Met1713Leu
ENST00000637276.1:c.5131A>C	ENSP00000489777.1:p.Met1711Leu
ENST00000637297.1:c.424A>C	ENSP00000489692.1:p.Met142Leu
ENST00000637432.1:c.5146A>C	ENSP00000490617.1:p.Met1716Leu
ENST00000637736.1:c.4990A>C	ENSP00000489861.1:p.Met1664Leu
ENST00000637769.1:c.5131A>C	ENSP00000489778.1:p.Met1711Leu
ENST00000637777.1:c.328-178A>C
ENST00000637809.1:n.521A>C
ENST00000637819.1:c.532A>C	ENSP00000490686.1:p.Met178Leu
ENST00000637832.1:n.122A>C
ENST00000637927.1:c.5134A>C	ENSP00000489715.1:p.Met1712Leu
ENST00000638009.2:c.5131A>C	ENSP00000489913.1:p.Met1711Leu
ENST00000638029.1:c.5146A>C	ENSP00000489829.1:p.Met1716Leu
ENST00000664864.1:c.5332A>C	ENSP00000499449.1:p.Met1778Leu
ENST00000360228.9:c.5128A>C	ENSP00000353362.5:p.Met1710Leu
ENST00000573710.6:c.5131A>C	ENSP00000460092.2:p.Met1711Leu
ENST00000573891.5:c.547A>C
ENST00000574822.5:n.352A>C
ENST00000585802.5:c.1186A>C	ENSP00000465598.1:p.Met396Leu
ENST00000587525.5:c.589A>C	ENSP00000467729.1:p.Met197Leu
ENST00000593267.1:n.333A>C
ENST00000614285.4:c.5146A>C	ENSP00000479983.1:p.Met1716Leu
NM_000068.3:c.5146A>C	NP_000059.3:p.Met1716Leu
NM_001127221.1:c.5131A>C , LRG_7t1:c.5131A>C	NP_001120693.1:p.Met1711Leu
NM_001127222.1:c.5128A>C	NP_001120694.1:p.Met1710Leu
NM_001174080.1:c.5137A>C	NP_001167551.1:p.Met1713Leu
NM_023035.2:c.5146A>C	NP_075461.2:p.Met1716Leu
NM_000068.4:c.5146A>C	NP_000059.3:p.Met1716Leu
NM_001127222.2:c.5128A>C MANE Select	NP_001120694.1:p.Met1710Leu
NM_001174080.2:c.5137A>C	NP_001167551.1:p.Met1713Leu
NM_023035.3:c.5146A>C	NP_075461.2:p.Met1716Leu
NM_001127221.2:c.5131A>C	NP_001120693.1:p.Met1711Leu