Canonical Allele Identifier: CA367892567
Gene: CACNA2D1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.81974470G>C , CM000669.2:g.81974470G>C GRCh38
NC_000007.13:g.81603786G>C , CM000669.1:g.81603786G>C GRCh37
NC_000007.12:g.81441722G>C NCBI36
NG_009358.2:g.474246C>G , LRG_437:g.474246C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000443883.2:c.2074C>G ENSP00000409374.2:p.Pro692Ala
ENST00000705961.1:c.1805C>G
ENST00000705962.1:c.1918C>G ENSP00000516190.1:p.Pro640Ala
ENST00000356860.8:c.2038C>G MANE Select ENSP00000349320.3:p.Pro680Ala
ENST00000356253.9:c.2074C>G ENSP00000348589.5:p.Pro692Ala
ENST00000356860.7:c.2038C>G ENSP00000349320.3:p.Pro680Ala
ENST00000443883.1:c.570C>G
NM_000722.3:c.2038C>G NP_000713.2:p.Pro680Ala
XM_005250570.1:c.2074C>G XP_005250627.1:p.Pro692Ala
XM_005250572.1:c.2023C>G XP_005250629.1:p.Pro675Ala
XM_005250573.1:c.2017C>G XP_005250630.1:p.Pro673Ala
XM_005250574.1:c.2002C>G XP_005250631.1:p.Pro668Ala
XM_006716118.1:c.2095C>G XP_006716181.1:p.Pro699Ala
XM_006716119.2:c.2020C>G XP_006716182.1:p.Pro674Ala
XM_006716120.2:c.1978C>G XP_006716183.1:p.Pro660Ala
XM_006716121.2:c.505C>G XP_006716184.1:p.Pro169Ala
XM_011516570.1:c.2095C>G XP_011514872.1:p.Pro699Ala
XM_011516571.1:c.2080C>G XP_011514873.1:p.Pro694Ala
XM_011516572.1:c.2059C>G XP_011514874.1:p.Pro687Ala
XM_011516573.1:c.1864C>G XP_011514875.1:p.Pro622Ala
NM_001366867.1:c.2074C>G NP_001353796.1:p.Pro692Ala
XM_005250572.3:c.2023C>G XP_005250629.1:p.Pro675Ala
XM_005250573.3:c.2017C>G XP_005250630.1:p.Pro673Ala
XM_005250574.3:c.2002C>G XP_005250631.1:p.Pro668Ala
XM_006716118.3:c.2095C>G XP_006716181.1:p.Pro699Ala
XM_006716119.3:c.2020C>G XP_006716182.1:p.Pro674Ala
XM_006716120.3:c.1978C>G XP_006716183.1:p.Pro660Ala
XM_006716121.3:c.505C>G XP_006716184.1:p.Pro169Ala
XM_011516570.3:c.2095C>G XP_011514872.1:p.Pro699Ala
XM_011516571.3:c.2080C>G XP_011514873.1:p.Pro694Ala
XM_011516572.3:c.2059C>G XP_011514874.1:p.Pro687Ala
XM_017012588.1:c.1921C>G XP_016868077.1:p.Pro641Ala
XR_001744873.2:n.2115C>G
XR_001744874.2:n.2022C>G
NM_000722.4:c.2038C>G MANE Select NP_000713.2:p.Pro680Ala