Canonical Allele Identifier: CA17618851

Gene: CAMTA1

Linked Data

• dbSNP Id: rs750425350
• gnomAD v3: 1-7469067-C-G
• gnomAD v4: 1-7469067-C-G
• MyVariant Identifiers: chr1:g.7529127C>G (hg19) ; chr1:g.7469067C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.7469067C>G , CM000663.2:g.7469067C>G	GRCh38
NC_000001.10:g.7529127C>G , CM000663.1:g.7529127C>G	GRCh37
NC_000001.9:g.7451714C>G	NCBI36
NG_053148.1:g.688744C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476864.2:c.510+1166C>G	ENSP00000452319.2:n.510+1166C>G
ENST00000700414.1:c.*361+1166C>G	ENSP00000514978.1:n.*361+1166C>G
ENST00000700415.1:c.420+1166C>G	ENSP00000514979.1:n.420+1166C>G
ENST00000700417.1:c.439-171333C>G	ENSP00000514981.1:n.439-171333C>G
ENST00000700444.1:c.*280-171333C>G	ENSP00000514992.1:n.*280-171333C>G
ENST00000303635.12:c.510+1166C>G MANE Select	ENSP00000306522.6:n.510+1166C>G
ENST00000303635.11:c.510+1166C>G	ENSP00000306522.6:n.510+1166C>G
NM_015215.3:c.510+1166C>G	NP_056030.1:n.510+1166C>G
XM_011541083.1:c.510+1166C>G	XP_011539385.1:n.510+1166C>G
XM_011541084.1:c.510+1166C>G	XP_011539386.1:n.510+1166C>G
XM_011541085.1:c.498+1166C>G	XP_011539387.1:n.498+1166C>G
XM_011541086.1:c.510+1166C>G	XP_011539388.1:n.510+1166C>G
XM_011541087.1:c.439-171333C>G	XP_011539389.1:n.439-171333C>G
XM_011541088.1:c.420+1166C>G	XP_011539390.1:n.420+1166C>G
XM_011541089.1:c.510+1166C>G	XP_011539391.1:n.510+1166C>G
XM_011541090.1:c.510+1166C>G	XP_011539392.1:n.510+1166C>G
XM_011541091.1:c.510+1166C>G	XP_011539393.1:n.510+1166C>G
XM_011541092.1:c.510+1166C>G	XP_011539394.1:n.510+1166C>G
NM_001349608.1:c.420+1166C>G	NP_001336537.1:n.420+1166C>G
NM_001349609.1:c.510+1166C>G	NP_001336538.1:n.510+1166C>G
NM_001349610.1:c.510+1166C>G	NP_001336539.1:n.510+1166C>G
NM_001349612.1:c.420+1166C>G	NP_001336541.1:n.420+1166C>G
XM_011541083.2:c.510+1166C>G	XP_011539385.1:n.510+1166C>G
XM_011541084.2:c.510+1166C>G	XP_011539386.1:n.510+1166C>G
XM_011541086.3:c.510+1166C>G	XP_011539388.1:n.510+1166C>G
XM_011541087.2:c.439-171333C>G	XP_011539389.1:n.439-171333C>G
XM_011541088.2:c.420+1166C>G	XP_011539390.1:n.420+1166C>G
XM_011541090.3:c.510+1166C>G	XP_011539392.1:n.510+1166C>G
XM_011541091.2:c.510+1166C>G	XP_011539393.1:n.510+1166C>G
XM_011541092.3:c.510+1166C>G	XP_011539394.1:n.510+1166C>G
XM_017000774.2:c.510+1166C>G	XP_016856263.1:n.510+1166C>G
XM_017000777.1:c.510+1166C>G	XP_016856266.1:n.510+1166C>G
XM_017000778.1:c.510+1166C>G	XP_016856267.1:n.510+1166C>G
NM_015215.4:c.510+1166C>G MANE Select	NP_056030.1:n.510+1166C>G
NM_001349608.2:c.420+1166C>G	NP_001336537.1:n.420+1166C>G
NM_001349609.2:c.510+1166C>G	NP_001336538.1:n.510+1166C>G
NM_001349610.2:c.510+1166C>G	NP_001336539.1:n.510+1166C>G
NM_001349612.2:c.420+1166C>G	NP_001336541.1:n.420+1166C>G