Canonical Allele Identifier: CA738969770

Gene: CAMTA1

Linked Data

• dbSNP Id: rs1364989793
• gnomAD v3: 1-7752337-C-T
• gnomAD v4: 1-7752337-C-T
• MyVariant Identifiers: chr1:g.7812397C>T (hg19) ; chr1:g.7752337C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.7752337C>T , CM000663.2:g.7752337C>T	GRCh38
NC_000001.10:g.7812397C>T , CM000663.1:g.7812397C>T	GRCh37
NC_000001.9:g.7734984C>T	NCBI36
NG_053148.1:g.972014C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710284.1:c.1638-122C>T	ENSP00000518174.1:n.1638-122C>T
ENST00000710285.1:c.1977-122C>T	ENSP00000518175.1:n.1977-122C>T
ENST00000476864.2:c.4545-122C>T	ENSP00000452319.2:n.4545-122C>T
ENST00000495233.6:c.2206-122C>T
ENST00000700414.1:c.*4417-122C>T	ENSP00000514978.1:n.*4417-122C>T
ENST00000700415.1:c.4476-122C>T	ENSP00000514979.1:n.4476-122C>T
ENST00000700417.1:c.4473-122C>T	ENSP00000514981.1:n.4473-122C>T
ENST00000700419.1:c.2730-122C>T	ENSP00000514983.1:n.2730-122C>T
ENST00000700420.1:c.1935-122C>T	ENSP00000514994.1:n.1935-122C>T
ENST00000700421.1:c.1956-122C>T	ENSP00000514995.1:n.1956-122C>T
ENST00000700422.1:n.1058-122C>T
ENST00000700423.1:c.1638-122C>T	ENSP00000514996.1:n.1638-122C>T
ENST00000700424.1:c.1638-122C>T	ENSP00000514997.1:n.1638-122C>T
ENST00000700425.1:c.1596-122C>T	ENSP00000514998.1:n.1596-122C>T
ENST00000700445.1:c.2230-122C>T
ENST00000700446.1:n.3280-122C>T
ENST00000700447.1:n.2564-122C>T
ENST00000700448.1:c.574-128C>T
ENST00000700449.1:c.88-122C>T
ENST00000303635.12:c.4884-122C>T MANE Select	ENSP00000306522.6:n.4884-122C>T
ENST00000303635.11:c.4884-122C>T	ENSP00000306522.6:n.4884-122C>T
ENST00000476864.1:c.576-122C>T	ENSP00000452319.1:n.576-122C>T
ENST00000490905.5:c.581-122C>T
ENST00000495233.5:c.1775-122C>T
NM_015215.3:c.4884-122C>T	NP_056030.1:n.4884-122C>T
XM_011541083.1:c.4905-122C>T	XP_011539385.1:n.4905-122C>T
XM_011541084.1:c.4905-122C>T	XP_011539386.1:n.4905-122C>T
XM_011541085.1:c.4893-122C>T	XP_011539387.1:n.4893-122C>T
XM_011541086.1:c.4884-122C>T	XP_011539388.1:n.4884-122C>T
XM_011541087.1:c.4833-122C>T	XP_011539389.1:n.4833-122C>T
XM_011541088.1:c.4815-122C>T	XP_011539390.1:n.4815-122C>T
XM_011541089.1:c.4566-122C>T	XP_011539391.1:n.4566-122C>T
XM_011541090.1:c.4566-122C>T	XP_011539392.1:n.4566-122C>T
NM_001349608.1:c.4794-122C>T	NP_001336537.1:n.4794-122C>T
NM_001349609.1:c.4566-122C>T	NP_001336538.1:n.4566-122C>T
NM_001349610.1:c.4566-128C>T	NP_001336539.1:n.4566-128C>T
NM_001349612.1:c.4476-122C>T	NP_001336541.1:n.4476-122C>T
NM_001349613.1:c.2013-122C>T	NP_001336542.1:n.2013-122C>T
NM_001349614.1:c.1977-122C>T	NP_001336543.1:n.1977-122C>T
NM_001349615.1:c.1977-122C>T	NP_001336544.1:n.1977-122C>T
NM_001349616.1:c.1977-122C>T	NP_001336545.1:n.1977-122C>T
NM_001349617.1:c.1956-122C>T	NP_001336546.1:n.1956-122C>T
NM_001349618.1:c.1956-122C>T	NP_001336547.1:n.1956-122C>T
NM_001349619.1:c.1638-122C>T	NP_001336548.1:n.1638-122C>T
NM_001349620.1:c.1638-122C>T	NP_001336549.1:n.1638-122C>T
NM_001349621.1:c.1638-122C>T	NP_001336550.1:n.1638-122C>T
NM_001349622.1:c.1638-122C>T	NP_001336551.1:n.1638-122C>T
NM_001349623.1:c.1617-122C>T	NP_001336552.1:n.1617-122C>T
NM_001349624.2:c.1617-122C>T	NP_001336553.1:n.1617-122C>T
NM_001349625.1:c.1617-122C>T	NP_001336554.1:n.1617-122C>T
NM_001349626.1:c.1617-122C>T	NP_001336555.1:n.1617-122C>T
XM_011541083.2:c.4905-122C>T	XP_011539385.1:n.4905-122C>T
XM_011541084.2:c.4905-122C>T	XP_011539386.1:n.4905-122C>T
XM_011541086.3:c.4884-122C>T	XP_011539388.1:n.4884-122C>T
XM_011541087.2:c.4833-122C>T	XP_011539389.1:n.4833-122C>T
XM_011541088.2:c.4815-122C>T	XP_011539390.1:n.4815-122C>T
XM_011541090.3:c.4566-122C>T	XP_011539392.1:n.4566-122C>T
XM_017000774.2:c.4905-122C>T	XP_016856263.1:n.4905-122C>T
XM_017000777.1:c.4545-122C>T	XP_016856266.1:n.4545-122C>T
XM_017000778.1:c.4545-122C>T	XP_016856267.1:n.4545-122C>T
XM_024454329.1:c.2166-122C>T	XP_024310097.1:n.2166-122C>T
XM_024454330.1:c.2145-122C>T	XP_024310098.1:n.2145-122C>T
XM_024454331.1:c.1977-122C>T	XP_024310099.1:n.1977-122C>T
XM_024454332.1:c.1977-122C>T	XP_024310100.1:n.1977-122C>T
XM_024454333.1:c.1977-122C>T	XP_024310101.1:n.1977-122C>T
XM_024454334.1:c.1977-122C>T	XP_024310102.1:n.1977-122C>T
XM_024454335.1:c.1977-122C>T	XP_024310103.1:n.1977-122C>T
XM_024454338.1:c.1638-122C>T	XP_024310106.1:n.1638-122C>T
NM_015215.4:c.4884-122C>T MANE Select	NP_056030.1:n.4884-122C>T
NM_001349608.2:c.4794-122C>T	NP_001336537.1:n.4794-122C>T
NM_001349609.2:c.4566-122C>T	NP_001336538.1:n.4566-122C>T
NM_001349610.2:c.4566-128C>T	NP_001336539.1:n.4566-128C>T
NM_001349612.2:c.4476-122C>T	NP_001336541.1:n.4476-122C>T
NM_001349615.2:c.1977-122C>T	NP_001336544.1:n.1977-122C>T
NM_001349616.2:c.1977-122C>T	NP_001336545.1:n.1977-122C>T
NM_001349618.2:c.1956-122C>T	NP_001336547.1:n.1956-122C>T
NM_001349619.2:c.1638-122C>T	NP_001336548.1:n.1638-122C>T
NM_001349622.2:c.1638-122C>T	NP_001336551.1:n.1638-122C>T
NM_001349624.3:c.1617-122C>T	NP_001336553.1:n.1617-122C>T
NM_001349626.2:c.1617-122C>T	NP_001336555.1:n.1617-122C>T
NM_001349625.2:c.1617-122C>T	NP_001336554.1:n.1617-122C>T