Canonical Allele Identifier: CA404331134

Gene: CACNA1A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13209480G>A , CM000681.2:g.13209480G>A	GRCh38
NC_000019.9:g.13320294G>A , CM000681.1:g.13320294G>A	GRCh37
NC_000019.8:g.13181294G>A	NCBI36
NG_011569.1:g.301981C>T , LRG_7:g.301981C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001127222.2:c.6358C>T MANE Select	NP_001120694.1:p.Pro2120Ser
ENST00000360228.11:c.6358C>T MANE Select	ENSP00000353362.5:p.Pro2120Ser
NM_000068.3:c.6376C>T	NP_000059.3:p.Pro2126Ser
NM_000068.4:c.6376C>T	NP_000059.3:p.Pro2126Ser
NM_001127221.1:c.6361C>T , LRG_7t1:c.6361C>T	NP_001120693.1:p.Pro2121Ser
NM_001127221.2:c.6361C>T	NP_001120693.1:p.Pro2121Ser
NM_001127222.1:c.6358C>T	NP_001120694.1:p.Pro2120Ser
NM_001174080.1:c.6367C>T	NP_001167551.1:p.Pro2123Ser
NM_001174080.2:c.6367C>T	NP_001167551.1:p.Pro2123Ser
NM_023035.2:c.6376C>T	NP_075461.2:p.Pro2126Ser
NM_023035.3:c.6376C>T	NP_075461.2:p.Pro2126Ser
ENST00000360228.9:c.6358C>T	ENSP00000353362.5:p.Pro2120Ser
ENST00000573710.6:c.6361C>T	ENSP00000460092.2:p.Pro2121Ser
ENST00000573710.7:c.6364C>T	ENSP00000460092.3:p.Pro2122Ser
ENST00000585802.5:c.2380C>T	ENSP00000465598.1:p.Pro794Ser
ENST00000585802.6:c.1483C>T	ENSP00000465598.2:p.Pro495Ser
ENST00000587525.5:c.1783C>T	ENSP00000467729.1:p.Pro595Ser
ENST00000614285.4:c.6376C>T	ENSP00000479983.1:p.Pro2126Ser
ENST00000635727.1:c.6361C>T	ENSP00000490001.1:p.Pro2121Ser
ENST00000635895.1:c.6361C>T	ENSP00000490323.1:p.Pro2121Ser
ENST00000636012.1:c.6325C>T	ENSP00000490223.1:p.Pro2109Ser
ENST00000636389.1:c.6361C>T	ENSP00000489992.1:p.Pro2121Ser
ENST00000636473.1:c.1228C>T	ENSP00000490173.1:p.Pro410Ser
ENST00000636549.1:c.6367C>T	ENSP00000490578.1:p.Pro2123Ser
ENST00000636610.1:n.2725C>T
ENST00000636768.1:c.852C>T	ENSP00000490190.1:n.852C>T
ENST00000637276.1:c.6325C>T	ENSP00000489777.1:p.Pro2109Ser
ENST00000637432.1:c.6376C>T	ENSP00000490617.1:p.Pro2126Ser
ENST00000637736.1:c.6220C>T	ENSP00000489861.1:p.Pro2074Ser
ENST00000637769.1:c.6361C>T	ENSP00000489778.1:p.Pro2121Ser
ENST00000637927.1:c.6364C>T	ENSP00000489715.1:p.Pro2122Ser
ENST00000638009.2:c.6361C>T	ENSP00000489913.1:p.Pro2121Ser
ENST00000638029.1:c.6376C>T	ENSP00000489829.1:p.Pro2126Ser
ENST00000664864.1:c.6562C>T	ENSP00000499449.1:p.Pro2188Ser