Canonical Allele Identifier: CA338126236
Gene: CAMTA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.7663767A>T , CM000663.2:g.7663767A>T GRCh38
NC_000001.10:g.7723827A>T , CM000663.1:g.7723827A>T GRCh37
NC_000001.9:g.7646414A>T NCBI36
NG_053148.1:g.883444A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000476864.2:c.1220A>T ENSP00000452319.2:p.Glu407Val
ENST00000700414.1:c.*1071A>T ENSP00000514978.1:n.*1071A>T
ENST00000700415.1:c.1130A>T ENSP00000514979.1:p.Glu377Val
ENST00000700417.1:c.1148A>T ENSP00000514981.1:p.Glu383Val
ENST00000700444.1:c.*989A>T ENSP00000514992.1:n.*989A>T
ENST00000303635.12:c.1220A>T MANE Select ENSP00000306522.6:p.Glu407Val
ENST00000303635.11:c.1220A>T ENSP00000306522.6:p.Glu407Val
NM_015215.3:c.1220A>T NP_056030.1:p.Glu407Val
XM_011541083.1:c.1220A>T XP_011539385.1:p.Glu407Val
XM_011541084.1:c.1220A>T XP_011539386.1:p.Glu407Val
XM_011541085.1:c.1208A>T XP_011539387.1:p.Glu403Val
XM_011541086.1:c.1220A>T XP_011539388.1:p.Glu407Val
XM_011541087.1:c.1148A>T XP_011539389.1:p.Glu383Val
XM_011541088.1:c.1130A>T XP_011539390.1:p.Glu377Val
XM_011541089.1:c.1220A>T XP_011539391.1:p.Glu407Val
XM_011541090.1:c.1220A>T XP_011539392.1:p.Glu407Val
XM_011541091.1:c.1220A>T XP_011539393.1:p.Glu407Val
XM_011541092.1:c.1220A>T XP_011539394.1:p.Glu407Val
NM_001349608.1:c.1130A>T NP_001336537.1:p.Glu377Val
NM_001349609.1:c.1220A>T NP_001336538.1:p.Glu407Val
NM_001349610.1:c.1220A>T NP_001336539.1:p.Glu407Val
NM_001349612.1:c.1130A>T NP_001336541.1:p.Glu377Val
XM_011541083.2:c.1220A>T XP_011539385.1:p.Glu407Val
XM_011541084.2:c.1220A>T XP_011539386.1:p.Glu407Val
XM_011541086.3:c.1220A>T XP_011539388.1:p.Glu407Val
XM_011541087.2:c.1148A>T XP_011539389.1:p.Glu383Val
XM_011541088.2:c.1130A>T XP_011539390.1:p.Glu377Val
XM_011541090.3:c.1220A>T XP_011539392.1:p.Glu407Val
XM_011541091.2:c.1220A>T XP_011539393.1:p.Glu407Val
XM_011541092.3:c.1220A>T XP_011539394.1:p.Glu407Val
XM_017000774.2:c.1220A>T XP_016856263.1:p.Glu407Val
XM_017000777.1:c.1220A>T XP_016856266.1:p.Glu407Val
XM_017000778.1:c.1220A>T XP_016856267.1:p.Glu407Val
NM_015215.4:c.1220A>T MANE Select NP_056030.1:p.Glu407Val
NM_001349608.2:c.1130A>T NP_001336537.1:p.Glu377Val
NM_001349609.2:c.1220A>T NP_001336538.1:p.Glu407Val
NM_001349610.2:c.1220A>T NP_001336539.1:p.Glu407Val
NM_001349612.2:c.1130A>T NP_001336541.1:p.Glu377Val