Canonical Allele Identifier: CA566422

Gene: CAMTA1

Linked Data

• ClinVar Variation Id: 2714097
• ClinVar RCV Id: RCV003550739
• dbSNP Id: rs145233171
• ExAC: 1:7723910 G / A
• gnomAD v2: 1-7723910-G-A
• gnomAD v3: 1-7663850-G-A
• gnomAD v4: 1-7663850-G-A
• COSMIC: COSM83867
• MyVariant Identifiers: chr1:g.7723910G>A (hg19) ; chr1:g.7663850G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.7663850G>A , CM000663.2:g.7663850G>A	GRCh38
NC_000001.10:g.7723910G>A , CM000663.1:g.7723910G>A	GRCh37
NC_000001.9:g.7646497G>A	NCBI36
NG_053148.1:g.883527G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476864.2:c.1303G>A	ENSP00000452319.2:p.Val435Met
ENST00000700414.1:c.*1154G>A	ENSP00000514978.1:n.*1154G>A
ENST00000700415.1:c.1213G>A	ENSP00000514979.1:p.Val405Met
ENST00000700417.1:c.1231G>A	ENSP00000514981.1:p.Val411Met
ENST00000700444.1:c.*1072G>A	ENSP00000514992.1:n.*1072G>A
ENST00000303635.12:c.1303G>A MANE Select	ENSP00000306522.6:p.Val435Met
ENST00000303635.11:c.1303G>A	ENSP00000306522.6:p.Val435Met
NM_015215.3:c.1303G>A	NP_056030.1:p.Val435Met
XM_011541083.1:c.1303G>A	XP_011539385.1:p.Val435Met
XM_011541084.1:c.1303G>A	XP_011539386.1:p.Val435Met
XM_011541085.1:c.1291G>A	XP_011539387.1:p.Val431Met
XM_011541086.1:c.1303G>A	XP_011539388.1:p.Val435Met
XM_011541087.1:c.1231G>A	XP_011539389.1:p.Val411Met
XM_011541088.1:c.1213G>A	XP_011539390.1:p.Val405Met
XM_011541089.1:c.1303G>A	XP_011539391.1:p.Val435Met
XM_011541090.1:c.1303G>A	XP_011539392.1:p.Val435Met
XM_011541091.1:c.1303G>A	XP_011539393.1:p.Val435Met
XM_011541092.1:c.1303G>A	XP_011539394.1:p.Val435Met
NM_001349608.1:c.1213G>A	NP_001336537.1:p.Val405Met
NM_001349609.1:c.1303G>A	NP_001336538.1:p.Val435Met
NM_001349610.1:c.1303G>A	NP_001336539.1:p.Val435Met
NM_001349612.1:c.1213G>A	NP_001336541.1:p.Val405Met
XM_011541083.2:c.1303G>A	XP_011539385.1:p.Val435Met
XM_011541084.2:c.1303G>A	XP_011539386.1:p.Val435Met
XM_011541086.3:c.1303G>A	XP_011539388.1:p.Val435Met
XM_011541087.2:c.1231G>A	XP_011539389.1:p.Val411Met
XM_011541088.2:c.1213G>A	XP_011539390.1:p.Val405Met
XM_011541090.3:c.1303G>A	XP_011539392.1:p.Val435Met
XM_011541091.2:c.1303G>A	XP_011539393.1:p.Val435Met
XM_011541092.3:c.1303G>A	XP_011539394.1:p.Val435Met
XM_017000774.2:c.1303G>A	XP_016856263.1:p.Val435Met
XM_017000777.1:c.1303G>A	XP_016856266.1:p.Val435Met
XM_017000778.1:c.1303G>A	XP_016856267.1:p.Val435Met
NM_015215.4:c.1303G>A MANE Select	NP_056030.1:p.Val435Met
NM_001349608.2:c.1213G>A	NP_001336537.1:p.Val405Met
NM_001349609.2:c.1303G>A	NP_001336538.1:p.Val435Met
NM_001349610.2:c.1303G>A	NP_001336539.1:p.Val435Met
NM_001349612.2:c.1213G>A	NP_001336541.1:p.Val405Met