Canonical Allele Identifier: CA9239559

Gene: CACNA1A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13214329C>T , CM000681.2:g.13214329C>T	GRCh38
NC_000019.9:g.13325143C>T , CM000681.1:g.13325143C>T	GRCh37
NC_000019.8:g.13186143C>T	NCBI36
NG_011569.1:g.297132G>A , LRG_7:g.297132G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001127222.2:c.5844G>A MANE Select	NP_001120694.1:p.Thr1948=
ENST00000360228.11:c.5844G>A MANE Select	ENSP00000353362.5:p.Thr1948=
NM_000068.3:c.5862G>A	NP_000059.3:p.Thr1954=
NM_000068.4:c.5862G>A	NP_000059.3:p.Thr1954=
NM_001127221.1:c.5847G>A , LRG_7t1:c.5847G>A	NP_001120693.1:p.Thr1949=
NM_001127221.2:c.5847G>A	NP_001120693.1:p.Thr1949=
NM_001127222.1:c.5844G>A	NP_001120694.1:p.Thr1948=
NM_001174080.1:c.5853G>A	NP_001167551.1:p.Thr1951=
NM_001174080.2:c.5853G>A	NP_001167551.1:p.Thr1951=
NM_023035.2:c.5862G>A	NP_075461.2:p.Thr1954=
NM_023035.3:c.5862G>A	NP_075461.2:p.Thr1954=
ENST00000360228.9:c.5844G>A	ENSP00000353362.5:p.Thr1948=
ENST00000573710.6:c.5847G>A	ENSP00000460092.2:p.Thr1949=
ENST00000573710.7:c.5850G>A	ENSP00000460092.3:p.Thr1950=
ENST00000585802.5:c.1902G>A	ENSP00000465598.1:p.Thr634=
ENST00000585802.6:c.1005G>A	ENSP00000465598.2:p.Thr335=
ENST00000587525.5:c.1305G>A	ENSP00000467729.1:p.Thr435=
ENST00000614285.4:c.5862G>A	ENSP00000479983.1:p.Thr1954=
ENST00000635727.1:c.5847G>A	ENSP00000490001.1:p.Thr1949=
ENST00000635895.1:c.5847G>A	ENSP00000490323.1:p.Thr1949=
ENST00000635988.1:n.2002G>A
ENST00000636012.1:c.5847G>A	ENSP00000490223.1:p.Thr1949=
ENST00000636074.1:n.906G>A
ENST00000636389.1:c.5847G>A	ENSP00000489992.1:p.Thr1949=
ENST00000636473.1:c.714G>A	ENSP00000490173.1:p.Thr238=
ENST00000636549.1:c.5853G>A	ENSP00000490578.1:p.Thr1951=
ENST00000636610.1:n.761G>A
ENST00000636768.1:c.374G>A	ENSP00000490190.1:n.374G>A
ENST00000637276.1:c.5847G>A	ENSP00000489777.1:p.Thr1949=
ENST00000637432.1:c.5862G>A	ENSP00000490617.1:p.Thr1954=
ENST00000637736.1:c.5706G>A	ENSP00000489861.1:p.Thr1902=
ENST00000637769.1:c.5847G>A	ENSP00000489778.1:p.Thr1949=
ENST00000637819.1:c.1248G>A	ENSP00000490686.1:p.Thr416=
ENST00000637927.1:c.5850G>A	ENSP00000489715.1:p.Thr1950=
ENST00000638009.2:c.5847G>A	ENSP00000489913.1:p.Thr1949=
ENST00000638029.1:c.5862G>A	ENSP00000489829.1:p.Thr1954=
ENST00000638114.1:n.56G>A
ENST00000664864.1:c.6048G>A	ENSP00000499449.1:p.Thr2016=