Canonical Allele Identifier: CA338122518

Gene: CAMTA1

Linked Data

• gnomAD v4: 1-7663550-C-A
• MyVariant Identifiers: chr1:g.7723610C>A (hg19) ; chr1:g.7663550C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.7663550C>A , CM000663.2:g.7663550C>A	GRCh38
NC_000001.10:g.7723610C>A , CM000663.1:g.7723610C>A	GRCh37
NC_000001.9:g.7646197C>A	NCBI36
NG_053148.1:g.883227C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476864.2:c.1003C>A	ENSP00000452319.2:p.Leu335Ile
ENST00000700414.1:c.*854C>A	ENSP00000514978.1:n.*854C>A
ENST00000700415.1:c.913C>A	ENSP00000514979.1:p.Leu305Ile
ENST00000700417.1:c.931C>A	ENSP00000514981.1:p.Leu311Ile
ENST00000700444.1:c.*772C>A	ENSP00000514992.1:n.*772C>A
ENST00000303635.12:c.1003C>A MANE Select	ENSP00000306522.6:p.Leu335Ile
ENST00000303635.11:c.1003C>A	ENSP00000306522.6:p.Leu335Ile
NM_015215.3:c.1003C>A	NP_056030.1:p.Leu335Ile
XM_011541083.1:c.1003C>A	XP_011539385.1:p.Leu335Ile
XM_011541084.1:c.1003C>A	XP_011539386.1:p.Leu335Ile
XM_011541085.1:c.991C>A	XP_011539387.1:p.Leu331Ile
XM_011541086.1:c.1003C>A	XP_011539388.1:p.Leu335Ile
XM_011541087.1:c.931C>A	XP_011539389.1:p.Leu311Ile
XM_011541088.1:c.913C>A	XP_011539390.1:p.Leu305Ile
XM_011541089.1:c.1003C>A	XP_011539391.1:p.Leu335Ile
XM_011541090.1:c.1003C>A	XP_011539392.1:p.Leu335Ile
XM_011541091.1:c.1003C>A	XP_011539393.1:p.Leu335Ile
XM_011541092.1:c.1003C>A	XP_011539394.1:p.Leu335Ile
NM_001349608.1:c.913C>A	NP_001336537.1:p.Leu305Ile
NM_001349609.1:c.1003C>A	NP_001336538.1:p.Leu335Ile
NM_001349610.1:c.1003C>A	NP_001336539.1:p.Leu335Ile
NM_001349612.1:c.913C>A	NP_001336541.1:p.Leu305Ile
XM_011541083.2:c.1003C>A	XP_011539385.1:p.Leu335Ile
XM_011541084.2:c.1003C>A	XP_011539386.1:p.Leu335Ile
XM_011541086.3:c.1003C>A	XP_011539388.1:p.Leu335Ile
XM_011541087.2:c.931C>A	XP_011539389.1:p.Leu311Ile
XM_011541088.2:c.913C>A	XP_011539390.1:p.Leu305Ile
XM_011541090.3:c.1003C>A	XP_011539392.1:p.Leu335Ile
XM_011541091.2:c.1003C>A	XP_011539393.1:p.Leu335Ile
XM_011541092.3:c.1003C>A	XP_011539394.1:p.Leu335Ile
XM_017000774.2:c.1003C>A	XP_016856263.1:p.Leu335Ile
XM_017000777.1:c.1003C>A	XP_016856266.1:p.Leu335Ile
XM_017000778.1:c.1003C>A	XP_016856267.1:p.Leu335Ile
NM_015215.4:c.1003C>A MANE Select	NP_056030.1:p.Leu335Ile
NM_001349608.2:c.913C>A	NP_001336537.1:p.Leu305Ile
NM_001349609.2:c.1003C>A	NP_001336538.1:p.Leu335Ile
NM_001349610.2:c.1003C>A	NP_001336539.1:p.Leu335Ile
NM_001349612.2:c.913C>A	NP_001336541.1:p.Leu305Ile