Canonical Allele Identifier: CA305547443
Community Standard Title: NM_001127222.2(CACNA1A):c.6667C>T (p.Pro2223Ser)
Gene: CACNA1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.13208869G>A , CM000681.2:g.13208869G>A GRCh38
NC_000019.9:g.13319683G>A , CM000681.1:g.13319683G>A GRCh37
NC_000019.8:g.13180683G>A NCBI36
NG_011569.1:g.302592C>T , LRG_7:g.302592C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001127222.2:c.6667C>T MANE Select NP_001120694.1:p.Pro2223Ser
ENST00000360228.11:c.6667C>T MANE Select ENSP00000353362.5:p.Pro2223Ser
NM_000068.3:c.6685C>T NP_000059.3:p.Pro2229Ser
NM_000068.4:c.6685C>T NP_000059.3:p.Pro2229Ser
NM_001127221.1:c.6670C>T , LRG_7t1:c.6670C>T NP_001120693.1:p.Pro2224Ser
NM_001127221.2:c.6670C>T NP_001120693.1:p.Pro2224Ser
NM_001127222.1:c.6667C>T NP_001120694.1:p.Pro2223Ser
NM_001174080.1:c.6676C>T NP_001167551.1:p.Pro2226Ser
NM_001174080.2:c.6676C>T NP_001167551.1:p.Pro2226Ser
NM_023035.2:c.6685C>T NP_075461.2:p.Pro2229Ser
NM_023035.3:c.6685C>T NP_075461.2:p.Pro2229Ser
ENST00000360228.9:c.6667C>T ENSP00000353362.5:p.Pro2223Ser
ENST00000573710.6:c.6670C>T ENSP00000460092.2:p.Pro2224Ser
ENST00000573710.7:c.6673C>T ENSP00000460092.3:p.Pro2225Ser
ENST00000585802.5:c.2689C>T ENSP00000465598.1:p.Pro897Ser
ENST00000585802.6:c.1792C>T ENSP00000465598.2:p.Pro598Ser
ENST00000587525.5:c.2092C>T ENSP00000467729.1:p.Pro698Ser
ENST00000614285.4:c.6685C>T ENSP00000479983.1:p.Pro2229Ser
ENST00000635727.1:c.6670C>T ENSP00000490001.1:p.Pro2224Ser
ENST00000635895.1:c.6670C>T ENSP00000490323.1:p.Pro2224Ser
ENST00000636012.1:c.6634C>T ENSP00000490223.1:p.Pro2212Ser
ENST00000636389.1:c.6670C>T ENSP00000489992.1:p.Pro2224Ser
ENST00000636473.1:c.1537C>T ENSP00000490173.1:p.Pro513Ser
ENST00000636549.1:c.6676C>T ENSP00000490578.1:p.Pro2226Ser
ENST00000637276.1:c.6634C>T ENSP00000489777.1:p.Pro2212Ser
ENST00000637432.1:c.6685C>T ENSP00000490617.1:p.Pro2229Ser
ENST00000637736.1:c.6529C>T ENSP00000489861.1:p.Pro2177Ser
ENST00000637769.1:c.6670C>T ENSP00000489778.1:p.Pro2224Ser
ENST00000637927.1:c.6673C>T ENSP00000489715.1:p.Pro2225Ser
ENST00000638009.2:c.6670C>T ENSP00000489913.1:p.Pro2224Ser
ENST00000638029.1:c.6685C>T ENSP00000489829.1:p.Pro2229Ser
ENST00000664864.1:c.6871C>T ENSP00000499449.1:p.Pro2291Ser