Canonical Allele Identifier: CA083665
Gene: CACNA1S HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.201043321A>T
GRCh37 chr1:g.201012449A>T
Revel Score:
ENST00000362061 (MANE Select) 0.234
ENST00000367338 0.234
gnomAD v2:
1:201012449 A / T
gnomAD v3:
1:201043321 A / T
gnomAD v4:
chr1-201043321-A-T
Joint Max Group AF 0.00022812 (NFE)
Genomes Max Group AF 0.0001587 (NFE)
Exomes Max Group AF 0.00022675 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.201043321A>T , CM000663.2:g.201043321A>T GRCh38
NC_000001.10:g.201012449A>T , CM000663.1:g.201012449A>T GRCh37
NC_000001.9:g.199279072A>T NCBI36
NG_009816.1:g.74246T>A
NG_009816.2:g.74246T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000362061.4:c.5008T>A MANE Select ENSP00000355192.3:p.Tyr1670Asn
ENST00000679417.1:c.*4171T>A ENSP00000506706.1:n.*4171T>A
ENST00000680051.1:n.2134T>A
ENST00000680059.1:c.*2526T>A ENSP00000504944.1:n.*2526T>A
ENST00000681078.1:c.*783T>A ENSP00000506645.1:n.*783T>A
ENST00000681190.1:c.*1190T>A ENSP00000506428.1:n.*1190T>A
ENST00000681874.1:c.4948T>A ENSP00000505162.1:p.Tyr1650Asn
ENST00000362061.3:c.5008T>A ENSP00000355192.3:p.Tyr1670Asn
ENST00000367338.7:c.4951T>A ENSP00000356307.3:p.Tyr1651Asn
NM_000069.2:c.5008T>A NP_000060.2:p.Tyr1670Asn
XM_005245478.2:c.4951T>A XP_005245535.1:p.Tyr1651Asn
XM_005245478.3:c.4951T>A XP_005245535.1:p.Tyr1651Asn
NM_000069.3:c.5008T>A MANE Select NP_000060.2:p.Tyr1670Asn
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