Canonical Allele Identifier: CA9239322

Gene: CACNA1A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13208923G>C , CM000681.2:g.13208923G>C	GRCh38
NC_000019.9:g.13319737G>C , CM000681.1:g.13319737G>C	GRCh37
NC_000019.8:g.13180737G>C	NCBI36
NG_011569.1:g.302538C>G , LRG_7:g.302538C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001127222.2:c.6613C>G MANE Select	NP_001120694.1:p.Arg2205Gly
ENST00000360228.11:c.6613C>G MANE Select	ENSP00000353362.5:p.Arg2205Gly
NM_000068.3:c.6631C>G	NP_000059.3:p.Arg2211Gly
NM_000068.4:c.6631C>G	NP_000059.3:p.Arg2211Gly
NM_001127221.1:c.6616C>G , LRG_7t1:c.6616C>G	NP_001120693.1:p.Arg2206Gly
NM_001127221.2:c.6616C>G	NP_001120693.1:p.Arg2206Gly
NM_001127222.1:c.6613C>G	NP_001120694.1:p.Arg2205Gly
NM_001174080.1:c.6622C>G	NP_001167551.1:p.Arg2208Gly
NM_001174080.2:c.6622C>G	NP_001167551.1:p.Arg2208Gly
NM_023035.2:c.6631C>G	NP_075461.2:p.Arg2211Gly
NM_023035.3:c.6631C>G	NP_075461.2:p.Arg2211Gly
ENST00000360228.9:c.6613C>G	ENSP00000353362.5:p.Arg2205Gly
ENST00000573710.6:c.6616C>G	ENSP00000460092.2:p.Arg2206Gly
ENST00000573710.7:c.6619C>G	ENSP00000460092.3:p.Arg2207Gly
ENST00000585802.5:c.2635C>G	ENSP00000465598.1:p.Arg879Gly
ENST00000585802.6:c.1738C>G	ENSP00000465598.2:p.Arg580Gly
ENST00000587525.5:c.2038C>G	ENSP00000467729.1:p.Arg680Gly
ENST00000614285.4:c.6631C>G	ENSP00000479983.1:p.Arg2211Gly
ENST00000635727.1:c.6616C>G	ENSP00000490001.1:p.Arg2206Gly
ENST00000635895.1:c.6616C>G	ENSP00000490323.1:p.Arg2206Gly
ENST00000636012.1:c.6580C>G	ENSP00000490223.1:p.Arg2194Gly
ENST00000636389.1:c.6616C>G	ENSP00000489992.1:p.Arg2206Gly
ENST00000636473.1:c.1483C>G	ENSP00000490173.1:p.Arg495Gly
ENST00000636549.1:c.6622C>G	ENSP00000490578.1:p.Arg2208Gly
ENST00000636610.1:n.2980C>G
ENST00000637276.1:c.6580C>G	ENSP00000489777.1:p.Arg2194Gly
ENST00000637432.1:c.6631C>G	ENSP00000490617.1:p.Arg2211Gly
ENST00000637736.1:c.6475C>G	ENSP00000489861.1:p.Arg2159Gly
ENST00000637769.1:c.6616C>G	ENSP00000489778.1:p.Arg2206Gly
ENST00000637927.1:c.6619C>G	ENSP00000489715.1:p.Arg2207Gly
ENST00000638009.2:c.6616C>G	ENSP00000489913.1:p.Arg2206Gly
ENST00000638029.1:c.6631C>G	ENSP00000489829.1:p.Arg2211Gly
ENST00000664864.1:c.6817C>G	ENSP00000499449.1:p.Arg2273Gly