Canonical Allele Identifier: CA456132547

Gene: CACNA2D1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.81971833A>G , CM000669.2:g.81971833A>G	GRCh38
NC_000007.13:g.81601149A>G , CM000669.1:g.81601149A>G	GRCh37
NC_000007.12:g.81439085A>G	NCBI36
NG_009358.2:g.476883T>C , LRG_437:g.476883T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000443883.2:c.2121T>C	ENSP00000409374.2:p.Leu707=
ENST00000705961.1:c.1852T>C
ENST00000705962.1:c.1965T>C	ENSP00000516190.1:p.Leu655=
ENST00000356860.8:c.2085T>C MANE Select	ENSP00000349320.3:p.Leu695=
ENST00000356253.9:c.2121T>C	ENSP00000348589.5:p.Leu707=
ENST00000356860.7:c.2085T>C	ENSP00000349320.3:p.Leu695=
ENST00000443883.1:c.617T>C
NM_000722.3:c.2085T>C	NP_000713.2:p.Leu695=
XM_005250570.1:c.2121T>C	XP_005250627.1:p.Leu707=
XM_005250572.1:c.2070T>C	XP_005250629.1:p.Leu690=
XM_005250573.1:c.2064T>C	XP_005250630.1:p.Leu688=
XM_005250574.1:c.2049T>C	XP_005250631.1:p.Leu683=
XM_006716118.1:c.2142T>C	XP_006716181.1:p.Leu714=
XM_006716119.2:c.2067T>C	XP_006716182.1:p.Leu689=
XM_006716120.2:c.2025T>C	XP_006716183.1:p.Leu675=
XM_006716121.2:c.552T>C	XP_006716184.1:p.Leu184=
XM_011516570.1:c.2142T>C	XP_011514872.1:p.Leu714=
XM_011516571.1:c.2127T>C	XP_011514873.1:p.Leu709=
XM_011516572.1:c.2106T>C	XP_011514874.1:p.Leu702=
XM_011516573.1:c.1911T>C	XP_011514875.1:p.Leu637=
NM_001366867.1:c.2121T>C	NP_001353796.1:p.Leu707=
XM_005250572.3:c.2070T>C	XP_005250629.1:p.Leu690=
XM_005250573.3:c.2064T>C	XP_005250630.1:p.Leu688=
XM_005250574.3:c.2049T>C	XP_005250631.1:p.Leu683=
XM_006716118.3:c.2142T>C	XP_006716181.1:p.Leu714=
XM_006716119.3:c.2067T>C	XP_006716182.1:p.Leu689=
XM_006716120.3:c.2025T>C	XP_006716183.1:p.Leu675=
XM_006716121.3:c.552T>C	XP_006716184.1:p.Leu184=
XM_011516570.3:c.2142T>C	XP_011514872.1:p.Leu714=
XM_011516571.3:c.2127T>C	XP_011514873.1:p.Leu709=
XM_011516572.3:c.2106T>C	XP_011514874.1:p.Leu702=
XM_017012588.1:c.1968T>C	XP_016868077.1:p.Leu656=
XR_001744873.2:n.2162T>C
XR_001744874.2:n.2069T>C
NM_000722.4:c.2085T>C MANE Select	NP_000713.2:p.Leu695=