Canonical Allele Identifier: CA338126168

Gene: CAMTA1

Linked Data

• ClinVar Variation Id: 806020
• ClinVar RCV Id: RCV000993869
• dbSNP Id: rs1558081450
• MyVariant Identifiers: chr1:g.7723814G>C (hg19) ; chr1:g.7663754G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.7663754G>C , CM000663.2:g.7663754G>C	GRCh38
NC_000001.10:g.7723814G>C , CM000663.1:g.7723814G>C	GRCh37
NC_000001.9:g.7646401G>C	NCBI36
NG_053148.1:g.883431G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476864.2:c.1207G>C	ENSP00000452319.2:p.Glu403Gln
ENST00000700414.1:c.*1058G>C	ENSP00000514978.1:n.*1058G>C
ENST00000700415.1:c.1117G>C	ENSP00000514979.1:p.Glu373Gln
ENST00000700417.1:c.1135G>C	ENSP00000514981.1:p.Glu379Gln
ENST00000700444.1:c.*976G>C	ENSP00000514992.1:n.*976G>C
ENST00000303635.12:c.1207G>C MANE Select	ENSP00000306522.6:p.Glu403Gln
ENST00000303635.11:c.1207G>C	ENSP00000306522.6:p.Glu403Gln
NM_015215.3:c.1207G>C	NP_056030.1:p.Glu403Gln
XM_011541083.1:c.1207G>C	XP_011539385.1:p.Glu403Gln
XM_011541084.1:c.1207G>C	XP_011539386.1:p.Glu403Gln
XM_011541085.1:c.1195G>C	XP_011539387.1:p.Glu399Gln
XM_011541086.1:c.1207G>C	XP_011539388.1:p.Glu403Gln
XM_011541087.1:c.1135G>C	XP_011539389.1:p.Glu379Gln
XM_011541088.1:c.1117G>C	XP_011539390.1:p.Glu373Gln
XM_011541089.1:c.1207G>C	XP_011539391.1:p.Glu403Gln
XM_011541090.1:c.1207G>C	XP_011539392.1:p.Glu403Gln
XM_011541091.1:c.1207G>C	XP_011539393.1:p.Glu403Gln
XM_011541092.1:c.1207G>C	XP_011539394.1:p.Glu403Gln
NM_001349608.1:c.1117G>C	NP_001336537.1:p.Glu373Gln
NM_001349609.1:c.1207G>C	NP_001336538.1:p.Glu403Gln
NM_001349610.1:c.1207G>C	NP_001336539.1:p.Glu403Gln
NM_001349612.1:c.1117G>C	NP_001336541.1:p.Glu373Gln
XM_011541083.2:c.1207G>C	XP_011539385.1:p.Glu403Gln
XM_011541084.2:c.1207G>C	XP_011539386.1:p.Glu403Gln
XM_011541086.3:c.1207G>C	XP_011539388.1:p.Glu403Gln
XM_011541087.2:c.1135G>C	XP_011539389.1:p.Glu379Gln
XM_011541088.2:c.1117G>C	XP_011539390.1:p.Glu373Gln
XM_011541090.3:c.1207G>C	XP_011539392.1:p.Glu403Gln
XM_011541091.2:c.1207G>C	XP_011539393.1:p.Glu403Gln
XM_011541092.3:c.1207G>C	XP_011539394.1:p.Glu403Gln
XM_017000774.2:c.1207G>C	XP_016856263.1:p.Glu403Gln
XM_017000777.1:c.1207G>C	XP_016856266.1:p.Glu403Gln
XM_017000778.1:c.1207G>C	XP_016856267.1:p.Glu403Gln
NM_015215.4:c.1207G>C MANE Select	NP_056030.1:p.Glu403Gln
NM_001349608.2:c.1117G>C	NP_001336537.1:p.Glu373Gln
NM_001349609.2:c.1207G>C	NP_001336538.1:p.Glu403Gln
NM_001349610.2:c.1207G>C	NP_001336539.1:p.Glu403Gln
NM_001349612.2:c.1117G>C	NP_001336541.1:p.Glu373Gln