Canonical Allele Identifier: CA083217

Gene: CACNA1S

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201049032T>G , CM000663.2:g.201049032T>G	GRCh38
NC_000001.10:g.201018160T>G , CM000663.1:g.201018160T>G	GRCh37
NC_000001.9:g.199284783T>G	NCBI36
NG_009816.1:g.68535A>C
NG_009816.2:g.68535A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000069.3:c.4309A>C MANE Select	NP_000060.2:p.Lys1437Gln
ENST00000362061.4:c.4309A>C MANE Select	ENSP00000355192.3:p.Lys1437Gln
NM_000069.2:c.4309A>C	NP_000060.2:p.Lys1437Gln
ENST00000362061.3:c.4309A>C	ENSP00000355192.3:p.Lys1437Gln
ENST00000367338.7:c.4252A>C	ENSP00000356307.3:p.Lys1418Gln
ENST00000679417.1:c.*3472A>C	ENSP00000506706.1:n.*3472A>C
ENST00000680051.1:n.1435A>C
ENST00000680059.1:c.*1827A>C	ENSP00000504944.1:n.*1827A>C
ENST00000681078.1:c.4309A>C	ENSP00000506645.1:p.Lys1437Gln
ENST00000681190.1:c.*491A>C	ENSP00000506428.1:n.*491A>C
ENST00000681874.1:c.4249A>C	ENSP00000505162.1:p.Lys1417Gln
XM_005245478.2:c.4252A>C	XP_005245535.1:p.Lys1418Gln
XM_005245478.3:c.4252A>C	XP_005245535.1:p.Lys1418Gln