Canonical Allele Identifier: CA161616886
Gene: CACNA2D1 HGNC NCBI

Linked Data

dbSNP Id: rs1047439218

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.82156870A>G , CM000669.2:g.82156870A>G GRCh38
NC_000007.13:g.81786186A>G , CM000669.1:g.81786186A>G GRCh37
NC_000007.12:g.81624122A>G NCBI36
NG_009358.2:g.291846T>C , LRG_437:g.291846T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000443883.2:c.354+13680T>C ENSP00000409374.2:n.354+13680T>C
ENST00000705961.1:c.136+13680T>C
ENST00000705962.1:c.270+13680T>C ENSP00000516190.1:n.270+13680T>C
ENST00000356860.8:c.354+13680T>C MANE Select ENSP00000349320.3:n.354+13680T>C
ENST00000356253.9:c.354+13680T>C ENSP00000348589.5:n.354+13680T>C
ENST00000356860.7:c.354+13680T>C ENSP00000349320.3:n.354+13680T>C
ENST00000423588.1:c.354+13680T>C ENSP00000405395.1:n.354+13680T>C
ENST00000484706.1:n.360+13680T>C
NM_000722.3:c.354+13680T>C NP_000713.2:n.354+13680T>C
NM_001302890.1:c.354+13680T>C NP_001289819.1:n.354+13680T>C
XM_005250570.1:c.354+13680T>C XP_005250627.1:n.354+13680T>C
XM_005250572.1:c.354+13680T>C XP_005250629.1:n.354+13680T>C
XM_005250573.1:c.354+13680T>C XP_005250630.1:n.354+13680T>C
XM_005250574.1:c.354+13680T>C XP_005250631.1:n.354+13680T>C
XM_006716118.1:c.354+13680T>C XP_006716181.1:n.354+13680T>C
XM_006716119.2:c.279+13680T>C XP_006716182.1:n.279+13680T>C
XM_006716120.2:c.237+13680T>C XP_006716183.1:n.237+13680T>C
XM_011516570.1:c.354+13680T>C XP_011514872.1:n.354+13680T>C
XM_011516571.1:c.354+13680T>C XP_011514873.1:n.354+13680T>C
XM_011516572.1:c.354+13680T>C XP_011514874.1:n.354+13680T>C
XM_011516573.1:c.123+13680T>C XP_011514875.1:n.123+13680T>C
XM_011516574.1:c.354+13680T>C XP_011514876.1:n.354+13680T>C
NM_001366867.1:c.354+13680T>C NP_001353796.1:n.354+13680T>C
XM_005250572.3:c.354+13680T>C XP_005250629.1:n.354+13680T>C
XM_005250573.3:c.354+13680T>C XP_005250630.1:n.354+13680T>C
XM_005250574.3:c.354+13680T>C XP_005250631.1:n.354+13680T>C
XM_006716118.3:c.354+13680T>C XP_006716181.1:n.354+13680T>C
XM_006716119.3:c.279+13680T>C XP_006716182.1:n.279+13680T>C
XM_006716120.3:c.237+13680T>C XP_006716183.1:n.237+13680T>C
XM_011516570.3:c.354+13680T>C XP_011514872.1:n.354+13680T>C
XM_011516571.3:c.354+13680T>C XP_011514873.1:n.354+13680T>C
XM_011516572.3:c.354+13680T>C XP_011514874.1:n.354+13680T>C
XM_017012588.1:c.237+13680T>C XP_016868077.1:n.237+13680T>C
XR_001744873.2:n.374+13680T>C
XR_001744874.2:n.374+13680T>C
NM_000722.4:c.354+13680T>C MANE Select NP_000713.2:n.354+13680T>C
NM_001302890.2:c.354+13680T>C NP_001289819.1:n.354+13680T>C