Canonical Allele Identifier: CA078119

Gene: CACNA1S

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201083261T>C , CM000663.2:g.201083261T>C	GRCh38
NC_000001.10:g.201052389T>C , CM000663.1:g.201052389T>C	GRCh37
NC_000001.9:g.199319012T>C	NCBI36
NG_009816.1:g.34306A>G
NG_009816.2:g.34306A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000069.3:c.1294A>G MANE Select	NP_000060.2:p.Lys432Glu
ENST00000362061.4:c.1294A>G MANE Select	ENSP00000355192.3:p.Lys432Glu
NM_000069.2:c.1294A>G	NP_000060.2:p.Lys432Glu
ENST00000362061.3:c.1294A>G	ENSP00000355192.3:p.Lys432Glu
ENST00000367338.7:c.1294A>G	ENSP00000356307.3:p.Lys432Glu
ENST00000679417.1:c.*457A>G	ENSP00000506706.1:n.*457A>G
ENST00000680059.1:c.1294A>G	ENSP00000504944.1:p.Lys432Glu
ENST00000681078.1:c.1294A>G	ENSP00000506645.1:p.Lys432Glu
ENST00000681190.1:c.1294A>G	ENSP00000506428.1:p.Lys432Glu
ENST00000681874.1:c.1294A>G	ENSP00000505162.1:p.Lys432Glu
XM_005245478.2:c.1294A>G	XP_005245535.1:p.Lys432Glu
XM_005245478.3:c.1294A>G	XP_005245535.1:p.Lys432Glu