Canonical Allele Identifier: CA2323806445
Community Standard Title: NM_001127222.2(CACNA1A):c.4466T= (p.Phe1489=)
Gene: CACNA1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.13257474A= , CM000681.2:g.13257474A= GRCh38
NC_000019.9:g.13368288A= , CM000681.1:g.13368288A= GRCh37
NC_000019.8:g.13229288A= NCBI36
NG_011569.1:g.253987T= , LRG_7:g.253987T=

Transcript Alleles

HGVS Amino-acid Change
NM_001127222.2:c.4466T= MANE Select NP_001120694.1:p.Phe1489=
ENST00000360228.11:c.4466T= MANE Select ENSP00000353362.5:p.Phe1489=
NM_000068.3:c.4478T= NP_000059.3:p.Phe1493=
NM_000068.4:c.4478T= NP_000059.3:p.Phe1493=
NM_001127221.1:c.4469T= , LRG_7t1:c.4469T= NP_001120693.1:p.Phe1490=
NM_001127221.2:c.4469T= NP_001120693.1:p.Phe1490=
NM_001127222.1:c.4466T= NP_001120694.1:p.Phe1489=
NM_001174080.1:c.4469T= NP_001167551.1:p.Phe1490=
NM_001174080.2:c.4469T= NP_001167551.1:p.Phe1490=
NM_023035.2:c.4478T= NP_075461.2:p.Phe1493=
NM_023035.3:c.4478T= NP_075461.2:p.Phe1493=
ENST00000360228.9:c.4466T= ENSP00000353362.5:p.Phe1489=
ENST00000573710.6:c.4469T= ENSP00000460092.2:p.Phe1490=
ENST00000573710.7:c.4472T= ENSP00000460092.3:p.Phe1491=
ENST00000585802.5:c.524T= ENSP00000465598.1:p.Phe175=
ENST00000614285.4:c.4478T= ENSP00000479983.1:p.Phe1493=
ENST00000635727.1:c.4469T= ENSP00000490001.1:p.Phe1490=
ENST00000635742.1:n.455T=
ENST00000635895.1:c.4469T= ENSP00000490323.1:p.Phe1490=
ENST00000635917.1:n.958T=
ENST00000636012.1:c.4469T= ENSP00000490223.1:p.Phe1490=
ENST00000636389.1:c.4469T= ENSP00000489992.1:p.Phe1490=
ENST00000636549.1:c.4469T= ENSP00000490578.1:p.Phe1490=
ENST00000636816.1:n.1154T=
ENST00000636984.1:n.749T=
ENST00000637004.1:n.932T=
ENST00000637168.1:n.1693T=
ENST00000637276.1:c.4469T= ENSP00000489777.1:p.Phe1490=
ENST00000637297.1:c.122T= ENSP00000489692.1:p.Phe41=
ENST00000637432.1:c.4478T= ENSP00000490617.1:p.Phe1493=
ENST00000637692.1:n.788T=
ENST00000637736.1:c.4328T= ENSP00000489861.1:p.Phe1443=
ENST00000637769.1:c.4469T= ENSP00000489778.1:p.Phe1490=
ENST00000637927.1:c.4472T= ENSP00000489715.1:p.Phe1491=
ENST00000638009.2:c.4469T= ENSP00000489913.1:p.Phe1490=
ENST00000638029.1:c.4478T= ENSP00000489829.1:p.Phe1493=
ENST00000664864.1:c.4664T= ENSP00000499449.1:p.Phe1555=