Canonical Allele Identifier: CA078357

Gene: CACNA1S

Linked Data

• ClinVar Variation Id: 1163183
• ClinVar RCV Id: RCV001508031
• dbSNP Id: rs369852385
• ExAC: 1:201047100 A / G
• gnomAD v2: 1-201047100-A-G
• gnomAD v3: 1-201077972-A-G
• gnomAD v4: 1-201077972-A-G
• MyVariant Identifiers: chr1:g.201047100A>G (hg19) ; chr1:g.201077972A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201077972A>G , CM000663.2:g.201077972A>G	GRCh38
NC_000001.10:g.201047100A>G , CM000663.1:g.201047100A>G	GRCh37
NC_000001.9:g.199313723A>G	NCBI36
NG_009816.1:g.39595T>C
NG_009816.2:g.39595T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362061.4:c.1526T>C MANE Select	ENSP00000355192.3:p.Leu509Pro
ENST00000679417.1:c.*689T>C	ENSP00000506706.1:n.*689T>C
ENST00000680059.1:c.1526T>C	ENSP00000504944.1:p.Leu509Pro
ENST00000681078.1:c.1526T>C	ENSP00000506645.1:p.Leu509Pro
ENST00000681190.1:c.1526T>C	ENSP00000506428.1:p.Leu509Pro
ENST00000681874.1:c.1526T>C	ENSP00000505162.1:p.Leu509Pro
ENST00000362061.3:c.1526T>C	ENSP00000355192.3:p.Leu509Pro
ENST00000367338.7:c.1526T>C	ENSP00000356307.3:p.Leu509Pro
NM_000069.2:c.1526T>C	NP_000060.2:p.Leu509Pro
XM_005245478.2:c.1526T>C	XP_005245535.1:p.Leu509Pro
XM_005245478.3:c.1526T>C	XP_005245535.1:p.Leu509Pro
NM_000069.3:c.1526T>C MANE Select	NP_000060.2:p.Leu509Pro