Canonical Allele Identifier: CA404337137

Gene: CACNA1A

Linked Data

• MyVariant Identifiers: chr19:g.13346536G>T (hg19) ; chr19:g.13235722G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13235722G>T , CM000681.2:g.13235722G>T	GRCh38
NC_000019.9:g.13346536G>T , CM000681.1:g.13346536G>T	GRCh37
NC_000019.8:g.13207536G>T	NCBI36
NG_011569.1:g.275739C>A , LRG_7:g.275739C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360228.11:c.4959C>A MANE Select	ENSP00000353362.5:p.Phe1653Leu
ENST00000573710.7:c.4965C>A	ENSP00000460092.3:p.Phe1655Leu
ENST00000573891.6:c.378C>A
ENST00000574822.6:n.183C>A
ENST00000585802.6:c.120C>A	ENSP00000465598.2:p.Phe40Leu
ENST00000593267.2:n.164C>A
ENST00000635727.1:c.4962C>A	ENSP00000490001.1:p.Phe1654Leu
ENST00000635742.1:n.948C>A
ENST00000635895.1:c.4962C>A	ENSP00000490323.1:p.Phe1654Leu
ENST00000636012.1:c.4962C>A	ENSP00000490223.1:p.Phe1654Leu
ENST00000636058.1:c.274C>A
ENST00000636389.1:c.4962C>A	ENSP00000489992.1:p.Phe1654Leu
ENST00000636473.1:c.120C>A	ENSP00000490173.1:p.Phe40Leu
ENST00000636549.1:c.4968C>A	ENSP00000490578.1:p.Phe1656Leu
ENST00000637276.1:c.4962C>A	ENSP00000489777.1:p.Phe1654Leu
ENST00000637297.1:c.255C>A	ENSP00000489692.1:p.Phe85Leu
ENST00000637432.1:c.4977C>A	ENSP00000490617.1:p.Phe1659Leu
ENST00000637736.1:c.4821C>A	ENSP00000489861.1:p.Phe1607Leu
ENST00000637769.1:c.4962C>A	ENSP00000489778.1:p.Phe1654Leu
ENST00000637777.1:c.219C>A
ENST00000637809.1:n.352C>A
ENST00000637819.1:c.363C>A	ENSP00000490686.1:p.Phe121Leu
ENST00000637927.1:c.4965C>A	ENSP00000489715.1:p.Phe1655Leu
ENST00000638009.2:c.4962C>A	ENSP00000489913.1:p.Phe1654Leu
ENST00000638029.1:c.4977C>A	ENSP00000489829.1:p.Phe1659Leu
ENST00000664864.1:c.5163C>A	ENSP00000499449.1:p.Phe1721Leu
ENST00000360228.9:c.4959C>A	ENSP00000353362.5:p.Phe1653Leu
ENST00000573710.6:c.4962C>A	ENSP00000460092.2:p.Phe1654Leu
ENST00000573891.5:c.378C>A
ENST00000574822.5:n.183C>A
ENST00000585802.5:c.1017C>A	ENSP00000465598.1:p.Phe339Leu
ENST00000587525.5:c.420C>A	ENSP00000467729.1:p.Phe140Leu
ENST00000593267.1:n.164C>A
ENST00000614285.4:c.4977C>A	ENSP00000479983.1:p.Phe1659Leu
NM_000068.3:c.4977C>A	NP_000059.3:p.Phe1659Leu
NM_001127221.1:c.4962C>A , LRG_7t1:c.4962C>A	NP_001120693.1:p.Phe1654Leu
NM_001127222.1:c.4959C>A	NP_001120694.1:p.Phe1653Leu
NM_001174080.1:c.4968C>A	NP_001167551.1:p.Phe1656Leu
NM_023035.2:c.4977C>A	NP_075461.2:p.Phe1659Leu
NM_000068.4:c.4977C>A	NP_000059.3:p.Phe1659Leu
NM_001127222.2:c.4959C>A MANE Select	NP_001120694.1:p.Phe1653Leu
NM_001174080.2:c.4968C>A	NP_001167551.1:p.Phe1656Leu
NM_023035.3:c.4977C>A	NP_075461.2:p.Phe1659Leu
NM_001127221.2:c.4962C>A	NP_001120693.1:p.Phe1654Leu