Canonical Allele Identifier: CA16618567
Gene: CACNA2D1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.81983328T>C , CM000669.2:g.81983328T>C GRCh38
NC_000007.13:g.81612644T>C , CM000669.1:g.81612644T>C GRCh37
NC_000007.12:g.81450580T>C NCBI36
NG_009358.2:g.465388A>G , LRG_437:g.465388A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000722.4:c.1880A>G MANE Select NP_000713.2:p.Lys627Arg
ENST00000356860.8:c.1880A>G MANE Select ENSP00000349320.3:p.Lys627Arg
NM_000722.3:c.1880A>G NP_000713.2:p.Lys627Arg
NM_001366867.1:c.1931-701A>G NP_001353796.1:n.1931-701A>G
ENST00000356253.9:c.1931-701A>G ENSP00000348589.5:n.1931-701A>G
ENST00000356860.7:c.1880A>G ENSP00000349320.3:p.Lys627Arg
ENST00000443883.1:c.427-701A>G
ENST00000443883.2:c.1931-701A>G ENSP00000409374.2:n.1931-701A>G
ENST00000705961.1:c.1647A>G
ENST00000705962.1:c.1775-701A>G ENSP00000516190.1:n.1775-701A>G
XM_005250570.1:c.1931-701A>G XP_005250627.1:n.1931-701A>G
XM_005250572.1:c.1865A>G XP_005250629.1:p.Lys622Arg
XM_005250572.3:c.1865A>G XP_005250629.1:p.Lys622Arg
XM_005250573.1:c.1874-701A>G XP_005250630.1:n.1874-701A>G
XM_005250573.3:c.1874-701A>G XP_005250630.1:n.1874-701A>G
XM_005250574.1:c.1859-701A>G XP_005250631.1:n.1859-701A>G
XM_005250574.3:c.1859-701A>G XP_005250631.1:n.1859-701A>G
XM_006716118.1:c.1937A>G XP_006716181.1:p.Lys646Arg
XM_006716118.3:c.1937A>G XP_006716181.1:p.Lys646Arg
XM_006716119.2:c.1862A>G XP_006716182.1:p.Lys621Arg
XM_006716119.3:c.1862A>G XP_006716182.1:p.Lys621Arg
XM_006716120.2:c.1820A>G XP_006716183.1:p.Lys607Arg
XM_006716120.3:c.1820A>G XP_006716183.1:p.Lys607Arg
XM_006716121.2:c.347A>G XP_006716184.1:p.Lys116Arg
XM_006716121.3:c.347A>G XP_006716184.1:p.Lys116Arg
XM_011516570.1:c.1937A>G XP_011514872.1:p.Lys646Arg
XM_011516570.3:c.1937A>G XP_011514872.1:p.Lys646Arg
XM_011516571.1:c.1922A>G XP_011514873.1:p.Lys641Arg
XM_011516571.3:c.1922A>G XP_011514873.1:p.Lys641Arg
XM_011516572.1:c.1916-701A>G XP_011514874.1:n.1916-701A>G
XM_011516572.3:c.1916-701A>G XP_011514874.1:n.1916-701A>G
XM_011516573.1:c.1706A>G XP_011514875.1:p.Lys569Arg
XM_017012588.1:c.1763A>G XP_016868077.1:p.Lys588Arg
XR_001744873.2:n.1957A>G
XR_001744874.2:n.1879-701A>G