Canonical Allele Identifier: CA338130691

Gene: CAMTA1

Linked Data

• ClinVar Variation Id: 2556137
• ClinVar RCV Id: RCV003277970
• gnomAD v4: 1-7664366-C-G
• MyVariant Identifiers: chr1:g.7724426C>G (hg19) ; chr1:g.7664366C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.7664366C>G , CM000663.2:g.7664366C>G	GRCh38
NC_000001.10:g.7724426C>G , CM000663.1:g.7724426C>G	GRCh37
NC_000001.9:g.7647013C>G	NCBI36
NG_053148.1:g.884043C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476864.2:c.1819C>G	ENSP00000452319.2:p.His607Asp
ENST00000700414.1:c.*1670C>G	ENSP00000514978.1:n.*1670C>G
ENST00000700415.1:c.1729C>G	ENSP00000514979.1:p.His577Asp
ENST00000700417.1:c.1747C>G	ENSP00000514981.1:p.His583Asp
ENST00000700419.1:c.82C>G	ENSP00000514983.1:p.His28Asp
ENST00000700444.1:c.*1588C>G	ENSP00000514992.1:n.*1588C>G
ENST00000303635.12:c.1819C>G MANE Select	ENSP00000306522.6:p.His607Asp
ENST00000303635.11:c.1819C>G	ENSP00000306522.6:p.His607Asp
NM_015215.3:c.1819C>G	NP_056030.1:p.His607Asp
XM_011541083.1:c.1819C>G	XP_011539385.1:p.His607Asp
XM_011541084.1:c.1819C>G	XP_011539386.1:p.His607Asp
XM_011541085.1:c.1807C>G	XP_011539387.1:p.His603Asp
XM_011541086.1:c.1819C>G	XP_011539388.1:p.His607Asp
XM_011541087.1:c.1747C>G	XP_011539389.1:p.His583Asp
XM_011541088.1:c.1729C>G	XP_011539390.1:p.His577Asp
XM_011541089.1:c.1819C>G	XP_011539391.1:p.His607Asp
XM_011541090.1:c.1819C>G	XP_011539392.1:p.His607Asp
XM_011541091.1:c.1819C>G	XP_011539393.1:p.His607Asp
XM_011541092.1:c.1819C>G	XP_011539394.1:p.His607Asp
NM_001349608.1:c.1729C>G	NP_001336537.1:p.His577Asp
NM_001349609.1:c.1819C>G	NP_001336538.1:p.His607Asp
NM_001349610.1:c.1819C>G	NP_001336539.1:p.His607Asp
NM_001349612.1:c.1729C>G	NP_001336541.1:p.His577Asp
XM_011541083.2:c.1819C>G	XP_011539385.1:p.His607Asp
XM_011541084.2:c.1819C>G	XP_011539386.1:p.His607Asp
XM_011541086.3:c.1819C>G	XP_011539388.1:p.His607Asp
XM_011541087.2:c.1747C>G	XP_011539389.1:p.His583Asp
XM_011541088.2:c.1729C>G	XP_011539390.1:p.His577Asp
XM_011541090.3:c.1819C>G	XP_011539392.1:p.His607Asp
XM_011541091.2:c.1819C>G	XP_011539393.1:p.His607Asp
XM_011541092.3:c.1819C>G	XP_011539394.1:p.His607Asp
XM_017000774.2:c.1819C>G	XP_016856263.1:p.His607Asp
XM_017000777.1:c.1819C>G	XP_016856266.1:p.His607Asp
XM_017000778.1:c.1819C>G	XP_016856267.1:p.His607Asp
NM_015215.4:c.1819C>G MANE Select	NP_056030.1:p.His607Asp
NM_001349608.2:c.1729C>G	NP_001336537.1:p.His577Asp
NM_001349609.2:c.1819C>G	NP_001336538.1:p.His607Asp
NM_001349610.2:c.1819C>G	NP_001336539.1:p.His607Asp
NM_001349612.2:c.1729C>G	NP_001336541.1:p.His577Asp