Canonical Allele Identifier: CA1720999254
Gene: CACNA2D1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.81974467T= , CM000669.2:g.81974467T= GRCh38
NC_000007.13:g.81603783T= , CM000669.1:g.81603783T= GRCh37
NC_000007.12:g.81441719T= NCBI36
NG_009358.2:g.474249A= , LRG_437:g.474249A=

Transcript Alleles

HGVS Amino-acid change
ENST00000443883.2:c.2077A= ENSP00000409374.2:p.Asn693=
ENST00000705961.1:c.1808A=
ENST00000705962.1:c.1921A= ENSP00000516190.1:p.Asn641=
ENST00000356860.8:c.2041A= MANE Select ENSP00000349320.3:p.Asn681=
ENST00000356253.9:c.2077A= ENSP00000348589.5:p.Asn693=
ENST00000356860.7:c.2041A= ENSP00000349320.3:p.Asn681=
ENST00000443883.1:c.573A=
NM_000722.3:c.2041A= NP_000713.2:p.Asn681=
XM_005250570.1:c.2077A= XP_005250627.1:p.Asn693=
XM_005250572.1:c.2026A= XP_005250629.1:p.Asn676=
XM_005250573.1:c.2020A= XP_005250630.1:p.Asn674=
XM_005250574.1:c.2005A= XP_005250631.1:p.Asn669=
XM_006716118.1:c.2098A= XP_006716181.1:p.Asn700=
XM_006716119.2:c.2023A= XP_006716182.1:p.Asn675=
XM_006716120.2:c.1981A= XP_006716183.1:p.Asn661=
XM_006716121.2:c.508A= XP_006716184.1:p.Asn170=
XM_011516570.1:c.2098A= XP_011514872.1:p.Asn700=
XM_011516571.1:c.2083A= XP_011514873.1:p.Asn695=
XM_011516572.1:c.2062A= XP_011514874.1:p.Asn688=
XM_011516573.1:c.1867A= XP_011514875.1:p.Asn623=
NM_001366867.1:c.2077A= NP_001353796.1:p.Asn693=
XM_005250572.3:c.2026A= XP_005250629.1:p.Asn676=
XM_005250573.3:c.2020A= XP_005250630.1:p.Asn674=
XM_005250574.3:c.2005A= XP_005250631.1:p.Asn669=
XM_006716118.3:c.2098A= XP_006716181.1:p.Asn700=
XM_006716119.3:c.2023A= XP_006716182.1:p.Asn675=
XM_006716120.3:c.1981A= XP_006716183.1:p.Asn661=
XM_006716121.3:c.508A= XP_006716184.1:p.Asn170=
XM_011516570.3:c.2098A= XP_011514872.1:p.Asn700=
XM_011516571.3:c.2083A= XP_011514873.1:p.Asn695=
XM_011516572.3:c.2062A= XP_011514874.1:p.Asn688=
XM_017012588.1:c.1924A= XP_016868077.1:p.Asn642=
XR_001744873.2:n.2118A=
XR_001744874.2:n.2025A=
NM_000722.4:c.2041A= MANE Select NP_000713.2:p.Asn681=