Canonical Allele Identifier: CA082558

Gene: CACNA1S

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201059274T>C , CM000663.2:g.201059274T>C	GRCh38
NC_000001.10:g.201028402T>C , CM000663.1:g.201028402T>C	GRCh37
NC_000001.9:g.199295025T>C	NCBI36
NG_009816.1:g.58293A>G
NG_009816.2:g.58293A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000069.3:c.3440A>G MANE Select	NP_000060.2:p.Asn1147Ser
ENST00000362061.4:c.3440A>G MANE Select	ENSP00000355192.3:p.Asn1147Ser
NM_000069.2:c.3440A>G	NP_000060.2:p.Asn1147Ser
ENST00000362061.3:c.3440A>G	ENSP00000355192.3:p.Asn1147Ser
ENST00000367338.7:c.3440A>G	ENSP00000356307.3:p.Asn1147Ser
ENST00000679417.1:c.*2603A>G	ENSP00000506706.1:n.*2603A>G
ENST00000680051.1:n.566A>G
ENST00000680059.1:c.*958A>G	ENSP00000504944.1:n.*958A>G
ENST00000681078.1:c.3440A>G	ENSP00000506645.1:p.Asn1147Ser
ENST00000681190.1:c.3440A>G	ENSP00000506428.1:p.Asn1147Ser
ENST00000681874.1:c.3380A>G	ENSP00000505162.1:p.Asn1127Ser
XM_005245478.2:c.3440A>G	XP_005245535.1:p.Asn1147Ser
XM_005245478.3:c.3440A>G	XP_005245535.1:p.Asn1147Ser