Canonical Allele Identifier: CA16603744
Gene: CAMTA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 393078
ClinVar RCV Id: RCV000442688
dbSNP Id: rs1057524775
MyVariant Identifiers: chr1:g.7724351G>T (hg19) chr1:g.7664291G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.7664291G>T , CM000663.2:g.7664291G>T GRCh38
NC_000001.10:g.7724351G>T , CM000663.1:g.7724351G>T GRCh37
NC_000001.9:g.7646938G>T NCBI36
NG_053148.1:g.883968G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000476864.2:c.1744G>T ENSP00000452319.2:p.Glu582Ter
ENST00000700414.1:c.*1595G>T ENSP00000514978.1:n.*1595G>T
ENST00000700415.1:c.1654G>T ENSP00000514979.1:p.Glu552Ter
ENST00000700417.1:c.1672G>T ENSP00000514981.1:p.Glu558Ter
ENST00000700419.1:c.7G>T ENSP00000514983.1:p.Glu3Ter
ENST00000700444.1:c.*1513G>T ENSP00000514992.1:n.*1513G>T
ENST00000303635.12:c.1744G>T MANE Select ENSP00000306522.6:p.Glu582Ter
ENST00000303635.11:c.1744G>T ENSP00000306522.6:p.Glu582Ter
NM_015215.3:c.1744G>T NP_056030.1:p.Glu582Ter
XM_011541083.1:c.1744G>T XP_011539385.1:p.Glu582Ter
XM_011541084.1:c.1744G>T XP_011539386.1:p.Glu582Ter
XM_011541085.1:c.1732G>T XP_011539387.1:p.Glu578Ter
XM_011541086.1:c.1744G>T XP_011539388.1:p.Glu582Ter
XM_011541087.1:c.1672G>T XP_011539389.1:p.Glu558Ter
XM_011541088.1:c.1654G>T XP_011539390.1:p.Glu552Ter
XM_011541089.1:c.1744G>T XP_011539391.1:p.Glu582Ter
XM_011541090.1:c.1744G>T XP_011539392.1:p.Glu582Ter
XM_011541091.1:c.1744G>T XP_011539393.1:p.Glu582Ter
XM_011541092.1:c.1744G>T XP_011539394.1:p.Glu582Ter
NM_001349608.1:c.1654G>T NP_001336537.1:p.Glu552Ter
NM_001349609.1:c.1744G>T NP_001336538.1:p.Glu582Ter
NM_001349610.1:c.1744G>T NP_001336539.1:p.Glu582Ter
NM_001349612.1:c.1654G>T NP_001336541.1:p.Glu552Ter
XM_011541083.2:c.1744G>T XP_011539385.1:p.Glu582Ter
XM_011541084.2:c.1744G>T XP_011539386.1:p.Glu582Ter
XM_011541086.3:c.1744G>T XP_011539388.1:p.Glu582Ter
XM_011541087.2:c.1672G>T XP_011539389.1:p.Glu558Ter
XM_011541088.2:c.1654G>T XP_011539390.1:p.Glu552Ter
XM_011541090.3:c.1744G>T XP_011539392.1:p.Glu582Ter
XM_011541091.2:c.1744G>T XP_011539393.1:p.Glu582Ter
XM_011541092.3:c.1744G>T XP_011539394.1:p.Glu582Ter
XM_017000774.2:c.1744G>T XP_016856263.1:p.Glu582Ter
XM_017000777.1:c.1744G>T XP_016856266.1:p.Glu582Ter
XM_017000778.1:c.1744G>T XP_016856267.1:p.Glu582Ter
NM_015215.4:c.1744G>T MANE Select NP_056030.1:p.Glu582Ter
NM_001349608.2:c.1654G>T NP_001336537.1:p.Glu552Ter
NM_001349609.2:c.1744G>T NP_001336538.1:p.Glu582Ter
NM_001349610.2:c.1744G>T NP_001336539.1:p.Glu582Ter
NM_001349612.2:c.1654G>T NP_001336541.1:p.Glu552Ter
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