Canonical Allele Identifier: CA083621

Gene: CACNA1S

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201043446A>G , CM000663.2:g.201043446A>G	GRCh38
NC_000001.10:g.201012574A>G , CM000663.1:g.201012574A>G	GRCh37
NC_000001.9:g.199279197A>G	NCBI36
NG_009816.1:g.74121T>C
NG_009816.2:g.74121T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000069.3:c.4883T>C MANE Select	NP_000060.2:p.Leu1628Pro
ENST00000362061.4:c.4883T>C MANE Select	ENSP00000355192.3:p.Leu1628Pro
NM_000069.2:c.4883T>C	NP_000060.2:p.Leu1628Pro
ENST00000362061.3:c.4883T>C	ENSP00000355192.3:p.Leu1628Pro
ENST00000367338.7:c.4826T>C	ENSP00000356307.3:p.Leu1609Pro
ENST00000679417.1:c.*4046T>C	ENSP00000506706.1:n.*4046T>C
ENST00000680051.1:n.2009T>C
ENST00000680059.1:c.*2401T>C	ENSP00000504944.1:n.*2401T>C
ENST00000681078.1:c.*658T>C	ENSP00000506645.1:n.*658T>C
ENST00000681190.1:c.*1065T>C	ENSP00000506428.1:n.*1065T>C
ENST00000681874.1:c.4823T>C	ENSP00000505162.1:p.Leu1608Pro
XM_005245478.2:c.4826T>C	XP_005245535.1:p.Leu1609Pro
XM_005245478.3:c.4826T>C	XP_005245535.1:p.Leu1609Pro