Canonical Allele Identifier: CA5377414

Gene: CACNA1B

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.138114401G>A , CM000671.2:g.138114401G>A	GRCh38
NC_000009.11:g.141008853G>A , CM000671.1:g.141008853G>A	GRCh37
NC_000009.10:g.140128674G>A	NCBI36
NG_042271.1:g.241613G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000718.4:c.5560G>A MANE Select	NP_000709.1:p.Val1854Ile
ENST00000371372.6:c.5560G>A MANE Select	ENSP00000360423.1:p.Val1854Ile
NM_000718.3:c.5560G>A	NP_000709.1:p.Val1854Ile
NM_001243812.1:c.5560G>A	NP_001230741.1:p.Val1854Ile
NM_001243812.2:c.5560G>A	NP_001230741.1:p.Val1854Ile
ENST00000277549.9:c.5560G>A	ENSP00000277549.6:p.Val1854Ile
ENST00000277551.6:c.5560G>A	ENSP00000277551.2:p.Val1854Ile
ENST00000371355.8:c.5563G>A	ENSP00000360406.4:p.Val1855Ile
ENST00000371357.5:c.5557G>A	ENSP00000360408.1:p.Val1853Ile
ENST00000371363.5:c.5554G>A	ENSP00000360414.1:p.Val1852Ile
ENST00000371372.5:c.5560G>A	ENSP00000360423.1:p.Val1854Ile
XM_011518990.1:c.5632G>A	XP_011517292.1:p.Val1878Ile
XM_011518991.1:c.5575G>A	XP_011517293.1:p.Val1859Ile
XM_011518992.1:c.5572G>A	XP_011517294.1:p.Val1858Ile
XM_011518993.1:c.5566G>A	XP_011517295.1:p.Val1856Ile
XM_011518994.1:c.5557G>A	XP_011517296.1:p.Val1853Ile
XM_011518996.1:c.2224G>A	XP_011517298.1:p.Val742Ile
XM_011518997.1:c.5614G>A	XP_011517299.1:p.Val1872Ile