Canonical Allele Identifier: CA344141866

Gene: CACNA1S

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201047165G>A , CM000663.2:g.201047165G>A	GRCh38
NC_000001.10:g.201016293G>A , CM000663.1:g.201016293G>A	GRCh37
NC_000001.9:g.199282916G>A	NCBI36
NG_009816.1:g.70402C>T
NG_009816.2:g.70402C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000069.3:c.4618C>T MANE Select	NP_000060.2:p.Gln1540Ter
ENST00000362061.4:c.4618C>T MANE Select	ENSP00000355192.3:p.Gln1540Ter
NM_000069.2:c.4618C>T	NP_000060.2:p.Gln1540Ter
ENST00000362061.3:c.4618C>T	ENSP00000355192.3:p.Gln1540Ter
ENST00000367338.7:c.4561C>T	ENSP00000356307.3:p.Gln1521Ter
ENST00000679417.1:c.*3781C>T	ENSP00000506706.1:n.*3781C>T
ENST00000680051.1:n.1744C>T
ENST00000680059.1:c.*2136C>T	ENSP00000504944.1:n.*2136C>T
ENST00000681078.1:c.*393C>T	ENSP00000506645.1:n.*393C>T
ENST00000681190.1:c.*800C>T	ENSP00000506428.1:n.*800C>T
ENST00000681874.1:c.4558C>T	ENSP00000505162.1:p.Gln1520Ter
XM_005245478.2:c.4561C>T	XP_005245535.1:p.Gln1521Ter
XM_005245478.3:c.4561C>T	XP_005245535.1:p.Gln1521Ter