Canonical Allele Identifier: CA404334407

Gene: CACNA1A

Linked Data

• gnomAD v4: 19-13231748-A-G
• MyVariant Identifiers: chr19:g.13342562A>G (hg19) ; chr19:g.13231748A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13231748A>G , CM000681.2:g.13231748A>G	GRCh38
NC_000019.9:g.13342562A>G , CM000681.1:g.13342562A>G	GRCh37
NC_000019.8:g.13203562A>G	NCBI36
NG_011569.1:g.279713T>C , LRG_7:g.279713T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000360228.11:c.5362T>C MANE Select	ENSP00000353362.5:p.Phe1788Leu
ENST00000573710.7:c.5368T>C	ENSP00000460092.3:p.Phe1790Leu
ENST00000573891.6:c.781T>C
ENST00000574822.6:n.586T>C
ENST00000585802.6:c.523T>C	ENSP00000465598.2:p.Phe175Leu
ENST00000635727.1:c.5365T>C	ENSP00000490001.1:p.Phe1789Leu
ENST00000635742.1:n.1351T>C
ENST00000635895.1:c.5365T>C	ENSP00000490323.1:p.Phe1789Leu
ENST00000636012.1:c.5365T>C	ENSP00000490223.1:p.Phe1789Leu
ENST00000636389.1:c.5365T>C	ENSP00000489992.1:p.Phe1789Leu
ENST00000636473.1:c.457T>C	ENSP00000490173.1:p.Phe153Leu
ENST00000636549.1:c.5371T>C	ENSP00000490578.1:p.Phe1791Leu
ENST00000637276.1:c.5365T>C	ENSP00000489777.1:p.Phe1789Leu
ENST00000637432.1:c.5380T>C	ENSP00000490617.1:p.Phe1794Leu
ENST00000637736.1:c.5224T>C	ENSP00000489861.1:p.Phe1742Leu
ENST00000637769.1:c.5365T>C	ENSP00000489778.1:p.Phe1789Leu
ENST00000637777.1:c.556T>C
ENST00000637809.1:n.755T>C
ENST00000637819.1:c.766T>C	ENSP00000490686.1:p.Phe256Leu
ENST00000637832.1:n.356T>C
ENST00000637927.1:c.5368T>C	ENSP00000489715.1:p.Phe1790Leu
ENST00000638009.2:c.5365T>C	ENSP00000489913.1:p.Phe1789Leu
ENST00000638029.1:c.5380T>C	ENSP00000489829.1:p.Phe1794Leu
ENST00000664864.1:c.5566T>C	ENSP00000499449.1:p.Phe1856Leu
ENST00000360228.9:c.5362T>C	ENSP00000353362.5:p.Phe1788Leu
ENST00000573710.6:c.5365T>C	ENSP00000460092.2:p.Phe1789Leu
ENST00000573891.5:c.781T>C
ENST00000574822.5:n.586T>C
ENST00000585802.5:c.1420T>C	ENSP00000465598.1:p.Phe474Leu
ENST00000587525.5:c.823T>C	ENSP00000467729.1:p.Phe275Leu
ENST00000614285.4:c.5380T>C	ENSP00000479983.1:p.Phe1794Leu
NM_000068.3:c.5380T>C	NP_000059.3:p.Phe1794Leu
NM_001127221.1:c.5365T>C , LRG_7t1:c.5365T>C	NP_001120693.1:p.Phe1789Leu
NM_001127222.1:c.5362T>C	NP_001120694.1:p.Phe1788Leu
NM_001174080.1:c.5371T>C	NP_001167551.1:p.Phe1791Leu
NM_023035.2:c.5380T>C	NP_075461.2:p.Phe1794Leu
NM_000068.4:c.5380T>C	NP_000059.3:p.Phe1794Leu
NM_001127222.2:c.5362T>C MANE Select	NP_001120694.1:p.Phe1788Leu
NM_001174080.2:c.5371T>C	NP_001167551.1:p.Phe1791Leu
NM_023035.3:c.5380T>C	NP_075461.2:p.Phe1794Leu
NM_001127221.2:c.5365T>C	NP_001120693.1:p.Phe1789Leu