Canonical Allele Identifier: CA344157715

Gene: CACNA1S

Linked Data

• MyVariant Identifiers: chr1:g.201027599C>T (hg19) ; chr1:g.201058471C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201058471C>T , CM000663.2:g.201058471C>T	GRCh38
NC_000001.10:g.201027599C>T , CM000663.1:g.201027599C>T	GRCh37
NC_000001.9:g.199294222C>T	NCBI36
NG_009816.1:g.59096G>A
NG_009816.2:g.59096G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362061.4:c.3546G>A MANE Select	ENSP00000355192.3:p.Trp1182Ter
ENST00000679417.1:c.*2709G>A	ENSP00000506706.1:n.*2709G>A
ENST00000680051.1:n.672G>A
ENST00000680059.1:c.*1064G>A	ENSP00000504944.1:n.*1064G>A
ENST00000681078.1:c.3546G>A	ENSP00000506645.1:p.Trp1182Ter
ENST00000681190.1:c.3546G>A	ENSP00000506428.1:p.Trp1182Ter
ENST00000681874.1:c.3486G>A	ENSP00000505162.1:p.Trp1162Ter
ENST00000362061.3:c.3546G>A	ENSP00000355192.3:p.Trp1182Ter
ENST00000367338.7:c.3546G>A	ENSP00000356307.3:p.Trp1182Ter
NM_000069.2:c.3546G>A	NP_000060.2:p.Trp1182Ter
XM_005245478.2:c.3546G>A	XP_005245535.1:p.Trp1182Ter
XM_005245478.3:c.3546G>A	XP_005245535.1:p.Trp1182Ter
NM_000069.3:c.3546G>A MANE Select	NP_000060.2:p.Trp1182Ter