Canonical Allele Identifier: CA404335761

Gene: CACNA1A

Linked Data

• MyVariant Identifiers: chr19:g.13345841T>C (hg19) ; chr19:g.13235027T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13235027T>C , CM000681.2:g.13235027T>C	GRCh38
NC_000019.9:g.13345841T>C , CM000681.1:g.13345841T>C	GRCh37
NC_000019.8:g.13206841T>C	NCBI36
NG_011569.1:g.276434A>G , LRG_7:g.276434A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360228.11:c.5143A>G MANE Select	ENSP00000353362.5:p.Asn1715Asp
ENST00000573710.7:c.5149A>G	ENSP00000460092.3:p.Asn1717Asp
ENST00000573891.6:c.562A>G
ENST00000574822.6:n.367A>G
ENST00000585802.6:c.304A>G	ENSP00000465598.2:p.Asn102Asp
ENST00000593267.2:n.348A>G
ENST00000635727.1:c.5146A>G	ENSP00000490001.1:p.Asn1716Asp
ENST00000635742.1:n.1132A>G
ENST00000635895.1:c.5146A>G	ENSP00000490323.1:p.Asn1716Asp
ENST00000636012.1:c.5146A>G	ENSP00000490223.1:p.Asn1716Asp
ENST00000636058.1:c.458A>G
ENST00000636389.1:c.5146A>G	ENSP00000489992.1:p.Asn1716Asp
ENST00000636473.1:c.238A>G	ENSP00000490173.1:p.Asn80Asp
ENST00000636549.1:c.5152A>G	ENSP00000490578.1:p.Asn1718Asp
ENST00000637276.1:c.5146A>G	ENSP00000489777.1:p.Asn1716Asp
ENST00000637297.1:c.439A>G	ENSP00000489692.1:p.Asn147Asp
ENST00000637432.1:c.5161A>G	ENSP00000490617.1:p.Asn1721Asp
ENST00000637736.1:c.5005A>G	ENSP00000489861.1:p.Asn1669Asp
ENST00000637769.1:c.5146A>G	ENSP00000489778.1:p.Asn1716Asp
ENST00000637777.1:c.337A>G
ENST00000637809.1:n.536A>G
ENST00000637819.1:c.547A>G	ENSP00000490686.1:p.Asn183Asp
ENST00000637832.1:n.137A>G
ENST00000637927.1:c.5149A>G	ENSP00000489715.1:p.Asn1717Asp
ENST00000638009.2:c.5146A>G	ENSP00000489913.1:p.Asn1716Asp
ENST00000638029.1:c.5161A>G	ENSP00000489829.1:p.Asn1721Asp
ENST00000664864.1:c.5347A>G	ENSP00000499449.1:p.Asn1783Asp
ENST00000360228.9:c.5143A>G	ENSP00000353362.5:p.Asn1715Asp
ENST00000573710.6:c.5146A>G	ENSP00000460092.2:p.Asn1716Asp
ENST00000573891.5:c.562A>G
ENST00000574822.5:n.367A>G
ENST00000585802.5:c.1201A>G	ENSP00000465598.1:p.Asn401Asp
ENST00000587525.5:c.604A>G	ENSP00000467729.1:p.Asn202Asp
ENST00000593267.1:n.348A>G
ENST00000614285.4:c.5161A>G	ENSP00000479983.1:p.Asn1721Asp
NM_000068.3:c.5161A>G	NP_000059.3:p.Asn1721Asp
NM_001127221.1:c.5146A>G , LRG_7t1:c.5146A>G	NP_001120693.1:p.Asn1716Asp
NM_001127222.1:c.5143A>G	NP_001120694.1:p.Asn1715Asp
NM_001174080.1:c.5152A>G	NP_001167551.1:p.Asn1718Asp
NM_023035.2:c.5161A>G	NP_075461.2:p.Asn1721Asp
NM_000068.4:c.5161A>G	NP_000059.3:p.Asn1721Asp
NM_001127222.2:c.5143A>G MANE Select	NP_001120694.1:p.Asn1715Asp
NM_001174080.2:c.5152A>G	NP_001167551.1:p.Asn1718Asp
NM_023035.3:c.5161A>G	NP_075461.2:p.Asn1721Asp
NM_001127221.2:c.5146A>G	NP_001120693.1:p.Asn1716Asp