Canonical Allele Identifier: CA456132641

Gene: CACNA2D1

Linked Data

• gnomAD v4: 7-81974471-A-T
• MyVariant Identifiers: chr7:g.81603787A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.81974471A>T , CM000669.2:g.81974471A>T	GRCh38
NC_000007.13:g.81603787A>T , CM000669.1:g.81603787A>T	GRCh37
NC_000007.12:g.81441723A>T	NCBI36
NG_009358.2:g.474245T>A , LRG_437:g.474245T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000443883.2:c.2073T>A	ENSP00000409374.2:p.Thr691=
ENST00000705961.1:c.1804T>A
ENST00000705962.1:c.1917T>A	ENSP00000516190.1:p.Thr639=
ENST00000356860.8:c.2037T>A MANE Select	ENSP00000349320.3:p.Thr679=
ENST00000356253.9:c.2073T>A	ENSP00000348589.5:p.Thr691=
ENST00000356860.7:c.2037T>A	ENSP00000349320.3:p.Thr679=
ENST00000443883.1:c.569T>A
NM_000722.3:c.2037T>A	NP_000713.2:p.Thr679=
XM_005250570.1:c.2073T>A	XP_005250627.1:p.Thr691=
XM_005250572.1:c.2022T>A	XP_005250629.1:p.Thr674=
XM_005250573.1:c.2016T>A	XP_005250630.1:p.Thr672=
XM_005250574.1:c.2001T>A	XP_005250631.1:p.Thr667=
XM_006716118.1:c.2094T>A	XP_006716181.1:p.Thr698=
XM_006716119.2:c.2019T>A	XP_006716182.1:p.Thr673=
XM_006716120.2:c.1977T>A	XP_006716183.1:p.Thr659=
XM_006716121.2:c.504T>A	XP_006716184.1:p.Thr168=
XM_011516570.1:c.2094T>A	XP_011514872.1:p.Thr698=
XM_011516571.1:c.2079T>A	XP_011514873.1:p.Thr693=
XM_011516572.1:c.2058T>A	XP_011514874.1:p.Thr686=
XM_011516573.1:c.1863T>A	XP_011514875.1:p.Thr621=
NM_001366867.1:c.2073T>A	NP_001353796.1:p.Thr691=
XM_005250572.3:c.2022T>A	XP_005250629.1:p.Thr674=
XM_005250573.3:c.2016T>A	XP_005250630.1:p.Thr672=
XM_005250574.3:c.2001T>A	XP_005250631.1:p.Thr667=
XM_006716118.3:c.2094T>A	XP_006716181.1:p.Thr698=
XM_006716119.3:c.2019T>A	XP_006716182.1:p.Thr673=
XM_006716120.3:c.1977T>A	XP_006716183.1:p.Thr659=
XM_006716121.3:c.504T>A	XP_006716184.1:p.Thr168=
XM_011516570.3:c.2094T>A	XP_011514872.1:p.Thr698=
XM_011516571.3:c.2079T>A	XP_011514873.1:p.Thr693=
XM_011516572.3:c.2058T>A	XP_011514874.1:p.Thr686=
XM_017012588.1:c.1920T>A	XP_016868077.1:p.Thr640=
XR_001744873.2:n.2114T>A
XR_001744874.2:n.2021T>A
NM_000722.4:c.2037T>A MANE Select	NP_000713.2:p.Thr679=