Canonical Allele Identifier: CA2692903715

Gene: CACNA1B

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137971602C>A , CM000671.2:g.137971602C>A	GRCh38
NC_000009.11:g.140866054C>A , CM000671.1:g.140866054C>A	GRCh37
NC_000009.10:g.139985875C>A	NCBI36
NG_042271.1:g.98814C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000718.4:c.1543+10C>A MANE Select	NP_000709.1:n.1543+10C>A
ENST00000371372.6:c.1543+10C>A MANE Select	ENSP00000360423.1:n.1543+10C>A
NM_000718.3:c.1543+10C>A	NP_000709.1:n.1543+10C>A
NM_001243812.1:c.1543+10C>A	NP_001230741.1:n.1543+10C>A
NM_001243812.2:c.1543+10C>A	NP_001230741.1:n.1543+10C>A
ENST00000277549.9:c.1543+10C>A	ENSP00000277549.6:n.1543+10C>A
ENST00000277551.6:c.1543+10C>A	ENSP00000277551.2:n.1543+10C>A
ENST00000371355.8:c.1546+10C>A	ENSP00000360406.4:n.1546+10C>A
ENST00000371357.5:c.1546+10C>A	ENSP00000360408.1:n.1546+10C>A
ENST00000371363.5:c.1543+10C>A	ENSP00000360414.1:n.1543+10C>A
ENST00000371372.5:c.1543+10C>A	ENSP00000360423.1:n.1543+10C>A
XM_011518990.1:c.1543+10C>A	XP_011517292.1:n.1543+10C>A
XM_011518991.1:c.1546+10C>A	XP_011517293.1:n.1546+10C>A
XM_011518992.1:c.1546+10C>A	XP_011517294.1:n.1546+10C>A
XM_011518993.1:c.1543+10C>A	XP_011517295.1:n.1543+10C>A
XM_011518994.1:c.1546+10C>A	XP_011517296.1:n.1546+10C>A
XM_011518995.1:c.1546+10C>A	XP_011517297.1:n.1546+10C>A
XM_011518997.1:c.1543+10C>A	XP_011517299.1:n.1543+10C>A