Canonical Allele Identifier: CA3233783943
Community Standard Title: NM_001127222.2(CACNA1A):c.6114G= (p.Met2038=)
Gene: CACNA1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.13212459C= , CM000681.2:g.13212459C= GRCh38
NC_000019.9:g.13323273C= , CM000681.1:g.13323273C= GRCh37
NC_000019.8:g.13184273C= NCBI36
NG_011569.1:g.299002G= , LRG_7:g.299002G=

Transcript Alleles

HGVS Amino-acid Change
NM_001127222.2:c.6114G= MANE Select NP_001120694.1:p.Met2038=
ENST00000360228.11:c.6114G= MANE Select ENSP00000353362.5:p.Met2038=
NM_000068.3:c.6132G= NP_000059.3:p.Met2044=
NM_000068.4:c.6132G= NP_000059.3:p.Met2044=
NM_001127221.1:c.6117G= , LRG_7t1:c.6117G= NP_001120693.1:p.Met2039=
NM_001127221.2:c.6117G= NP_001120693.1:p.Met2039=
NM_001127222.1:c.6114G= NP_001120694.1:p.Met2038=
NM_001174080.1:c.6123G= NP_001167551.1:p.Met2041=
NM_001174080.2:c.6123G= NP_001167551.1:p.Met2041=
NM_023035.2:c.6132G= NP_075461.2:p.Met2044=
NM_023035.3:c.6132G= NP_075461.2:p.Met2044=
ENST00000360228.9:c.6114G= ENSP00000353362.5:p.Met2038=
ENST00000573710.6:c.6117G= ENSP00000460092.2:p.Met2039=
ENST00000573710.7:c.6120G= ENSP00000460092.3:p.Met2040=
ENST00000585802.5:c.2172G= ENSP00000465598.1:p.Met724=
ENST00000585802.6:c.1275G= ENSP00000465598.2:p.Met425=
ENST00000587525.5:c.1575G= ENSP00000467729.1:p.Met525=
ENST00000614285.4:c.6132G= ENSP00000479983.1:p.Met2044=
ENST00000635727.1:c.6117G= ENSP00000490001.1:p.Met2039=
ENST00000635895.1:c.6117G= ENSP00000490323.1:p.Met2039=
ENST00000636012.1:c.6117G= ENSP00000490223.1:p.Met2039=
ENST00000636389.1:c.6117G= ENSP00000489992.1:p.Met2039=
ENST00000636473.1:c.984G= ENSP00000490173.1:p.Met328=
ENST00000636549.1:c.6123G= ENSP00000490578.1:p.Met2041=
ENST00000636610.1:n.1031G=
ENST00000636768.1:c.644G= ENSP00000490190.1:n.644G=
ENST00000637276.1:c.6117G= ENSP00000489777.1:p.Met2039=
ENST00000637432.1:c.6132G= ENSP00000490617.1:p.Met2044=
ENST00000637736.1:c.5976G= ENSP00000489861.1:p.Met1992=
ENST00000637769.1:c.6117G= ENSP00000489778.1:p.Met2039=
ENST00000637927.1:c.6120G= ENSP00000489715.1:p.Met2040=
ENST00000638009.2:c.6117G= ENSP00000489913.1:p.Met2039=
ENST00000638029.1:c.6132G= ENSP00000489829.1:p.Met2044=
ENST00000664864.1:c.6318G= ENSP00000499449.1:p.Met2106=