Canonical Allele Identifier: CA2692903908

Gene: CACNA1B

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137971728T>C , CM000671.2:g.137971728T>C	GRCh38
NC_000009.11:g.140866180T>C , CM000671.1:g.140866180T>C	GRCh37
NC_000009.10:g.139986001T>C	NCBI36
NG_042271.1:g.98940T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000718.4:c.1543+136T>C MANE Select	NP_000709.1:n.1543+136T>C
ENST00000371372.6:c.1543+136T>C MANE Select	ENSP00000360423.1:n.1543+136T>C
NM_000718.3:c.1543+136T>C	NP_000709.1:n.1543+136T>C
NM_001243812.1:c.1543+136T>C	NP_001230741.1:n.1543+136T>C
NM_001243812.2:c.1543+136T>C	NP_001230741.1:n.1543+136T>C
ENST00000277549.9:c.1543+136T>C	ENSP00000277549.6:n.1543+136T>C
ENST00000277551.6:c.1543+136T>C	ENSP00000277551.2:n.1543+136T>C
ENST00000371355.8:c.1546+136T>C	ENSP00000360406.4:n.1546+136T>C
ENST00000371357.5:c.1546+136T>C	ENSP00000360408.1:n.1546+136T>C
ENST00000371363.5:c.1543+136T>C	ENSP00000360414.1:n.1543+136T>C
ENST00000371372.5:c.1543+136T>C	ENSP00000360423.1:n.1543+136T>C
XM_011518990.1:c.1543+136T>C	XP_011517292.1:n.1543+136T>C
XM_011518991.1:c.1546+136T>C	XP_011517293.1:n.1546+136T>C
XM_011518992.1:c.1546+136T>C	XP_011517294.1:n.1546+136T>C
XM_011518993.1:c.1543+136T>C	XP_011517295.1:n.1543+136T>C
XM_011518994.1:c.1546+136T>C	XP_011517296.1:n.1546+136T>C
XM_011518995.1:c.1546+136T>C	XP_011517297.1:n.1546+136T>C
XM_011518997.1:c.1543+136T>C	XP_011517299.1:n.1543+136T>C