Canonical Allele Identifier: CA083135

Gene: CACNA1S

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201050460G>C , CM000663.2:g.201050460G>C	GRCh38
NC_000001.10:g.201019588G>C , CM000663.1:g.201019588G>C	GRCh37
NC_000001.9:g.199286211G>C	NCBI36
NG_009816.1:g.67107C>G
NG_009816.2:g.67107C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000069.3:c.4170C>G MANE Select	NP_000060.2:p.Asp1390Glu
ENST00000362061.4:c.4170C>G MANE Select	ENSP00000355192.3:p.Asp1390Glu
NM_000069.2:c.4170C>G	NP_000060.2:p.Asp1390Glu
ENST00000362061.3:c.4170C>G	ENSP00000355192.3:p.Asp1390Glu
ENST00000367338.7:c.4113C>G	ENSP00000356307.3:p.Asp1371Glu
ENST00000679417.1:c.*3333C>G	ENSP00000506706.1:n.*3333C>G
ENST00000680051.1:n.1296C>G
ENST00000680059.1:c.*1688C>G	ENSP00000504944.1:n.*1688C>G
ENST00000681078.1:c.4170C>G	ENSP00000506645.1:p.Asp1390Glu
ENST00000681190.1:c.*352C>G	ENSP00000506428.1:n.*352C>G
ENST00000681874.1:c.4110C>G	ENSP00000505162.1:p.Asp1370Glu
XM_005245478.2:c.4113C>G	XP_005245535.1:p.Asp1371Glu
XM_005245478.3:c.4113C>G	XP_005245535.1:p.Asp1371Glu