Canonical Allele Identifier: CA083612

Gene: CACNA1S

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201043471G>C , CM000663.2:g.201043471G>C	GRCh38
NC_000001.10:g.201012599G>C , CM000663.1:g.201012599G>C	GRCh37
NC_000001.9:g.199279222G>C	NCBI36
NG_009816.1:g.74096C>G
NG_009816.2:g.74096C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000069.3:c.4858C>G MANE Select	NP_000060.2:p.Pro1620Ala
ENST00000362061.4:c.4858C>G MANE Select	ENSP00000355192.3:p.Pro1620Ala
NM_000069.2:c.4858C>G	NP_000060.2:p.Pro1620Ala
ENST00000362061.3:c.4858C>G	ENSP00000355192.3:p.Pro1620Ala
ENST00000367338.7:c.4801C>G	ENSP00000356307.3:p.Pro1601Ala
ENST00000679417.1:c.*4021C>G	ENSP00000506706.1:n.*4021C>G
ENST00000680051.1:n.1984C>G
ENST00000680059.1:c.*2376C>G	ENSP00000504944.1:n.*2376C>G
ENST00000681078.1:c.*633C>G	ENSP00000506645.1:n.*633C>G
ENST00000681190.1:c.*1040C>G	ENSP00000506428.1:n.*1040C>G
ENST00000681874.1:c.4798C>G	ENSP00000505162.1:p.Pro1600Ala
XM_005245478.2:c.4801C>G	XP_005245535.1:p.Pro1601Ala
XM_005245478.3:c.4801C>G	XP_005245535.1:p.Pro1601Ala