Canonical Allele Identifier: CA404334248

Gene: CACNA1A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13231717G>T , CM000681.2:g.13231717G>T	GRCh38
NC_000019.9:g.13342531G>T , CM000681.1:g.13342531G>T	GRCh37
NC_000019.8:g.13203531G>T	NCBI36
NG_011569.1:g.279744C>A , LRG_7:g.279744C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001127222.2:c.5393C>A MANE Select	NP_001120694.1:p.Ser1798Ter
ENST00000360228.11:c.5393C>A MANE Select	ENSP00000353362.5:p.Ser1798Ter
NM_000068.3:c.5411C>A	NP_000059.3:p.Ser1804Ter
NM_000068.4:c.5411C>A	NP_000059.3:p.Ser1804Ter
NM_001127221.1:c.5396C>A , LRG_7t1:c.5396C>A	NP_001120693.1:p.Ser1799Ter
NM_001127221.2:c.5396C>A	NP_001120693.1:p.Ser1799Ter
NM_001127222.1:c.5393C>A	NP_001120694.1:p.Ser1798Ter
NM_001174080.1:c.5402C>A	NP_001167551.1:p.Ser1801Ter
NM_001174080.2:c.5402C>A	NP_001167551.1:p.Ser1801Ter
NM_023035.2:c.5411C>A	NP_075461.2:p.Ser1804Ter
NM_023035.3:c.5411C>A	NP_075461.2:p.Ser1804Ter
ENST00000360228.9:c.5393C>A	ENSP00000353362.5:p.Ser1798Ter
ENST00000573710.6:c.5396C>A	ENSP00000460092.2:p.Ser1799Ter
ENST00000573710.7:c.5399C>A	ENSP00000460092.3:p.Ser1800Ter
ENST00000573891.5:c.812C>A
ENST00000573891.6:c.812C>A
ENST00000574822.5:n.617C>A
ENST00000574822.6:n.617C>A
ENST00000585802.5:c.1451C>A	ENSP00000465598.1:p.Ser484Ter
ENST00000585802.6:c.554C>A	ENSP00000465598.2:p.Ser185Ter
ENST00000587525.5:c.854C>A	ENSP00000467729.1:p.Ser285Ter
ENST00000614285.4:c.5411C>A	ENSP00000479983.1:p.Ser1804Ter
ENST00000635727.1:c.5396C>A	ENSP00000490001.1:p.Ser1799Ter
ENST00000635742.1:n.1382C>A
ENST00000635895.1:c.5396C>A	ENSP00000490323.1:p.Ser1799Ter
ENST00000636012.1:c.5396C>A	ENSP00000490223.1:p.Ser1799Ter
ENST00000636389.1:c.5396C>A	ENSP00000489992.1:p.Ser1799Ter
ENST00000636473.1:c.488C>A	ENSP00000490173.1:p.Ser163Ter
ENST00000636549.1:c.5402C>A	ENSP00000490578.1:p.Ser1801Ter
ENST00000636768.1:c.20C>A	ENSP00000490190.1:p.Ser7Ter
ENST00000637276.1:c.5396C>A	ENSP00000489777.1:p.Ser1799Ter
ENST00000637432.1:c.5411C>A	ENSP00000490617.1:p.Ser1804Ter
ENST00000637736.1:c.5255C>A	ENSP00000489861.1:p.Ser1752Ter
ENST00000637769.1:c.5396C>A	ENSP00000489778.1:p.Ser1799Ter
ENST00000637777.1:c.587C>A
ENST00000637809.1:n.786C>A
ENST00000637819.1:c.797C>A	ENSP00000490686.1:p.Ser266Ter
ENST00000637832.1:n.387C>A
ENST00000637927.1:c.5399C>A	ENSP00000489715.1:p.Ser1800Ter
ENST00000638009.2:c.5396C>A	ENSP00000489913.1:p.Ser1799Ter
ENST00000638029.1:c.5411C>A	ENSP00000489829.1:p.Ser1804Ter
ENST00000664864.1:c.5597C>A	ENSP00000499449.1:p.Ser1866Ter