Canonical Allele Identifier: CA35994022

Gene: CAMSAP2

Linked Data

• dbSNP Id: rs1023474987
• gnomAD v2: 1-200826677-T-A
• gnomAD v3: 1-200857549-T-A
• gnomAD v4: 1-200857549-T-A
• MyVariant Identifiers: chr1:g.200826677T>A (hg19) ; chr1:g.200857549T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.200857549T>A , CM000663.2:g.200857549T>A	GRCh38
NC_000001.10:g.200826677T>A , CM000663.1:g.200826677T>A	GRCh37
NC_000001.9:g.199093300T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000358823.7:c.4131+125T>A MANE Select	ENSP00000351684.2:n.4131+125T>A
ENST00000236925.8:c.4164+125T>A	ENSP00000236925.4:n.4164+125T>A
ENST00000358823.6:c.4131+125T>A	ENSP00000351684.2:n.4131+125T>A
ENST00000413307.6:c.4083+125T>A	ENSP00000416800.2:n.4083+125T>A
ENST00000475326.1:c.276T>A
NM_001297707.1:c.4164+125T>A	NP_001284636.1:n.4164+125T>A
NM_001297708.1:c.4083+125T>A	NP_001284637.1:n.4083+125T>A
NM_203459.2:c.4131+125T>A	NP_982284.1:n.4131+125T>A
XM_005245041.2:c.4116+125T>A	XP_005245098.1:n.4116+125T>A
XM_005245041.3:c.4116+125T>A	XP_005245098.1:n.4116+125T>A
XM_017000799.1:c.3831+125T>A	XP_016856288.1:n.3831+125T>A
NM_001297707.2:c.4164+125T>A	NP_001284636.1:n.4164+125T>A
NM_001297708.2:c.4083+125T>A	NP_001284637.1:n.4083+125T>A
NM_203459.3:c.4131+125T>A	NP_982284.1:n.4131+125T>A
NM_001297707.3:c.4164+125T>A	NP_001284636.1:n.4164+125T>A
NM_001297708.3:c.4083+125T>A	NP_001284637.1:n.4083+125T>A
NM_001389638.1:c.4116+125T>A	NP_001376567.1:n.4116+125T>A
NM_203459.4:c.4131+125T>A MANE Select	NP_982284.1:n.4131+125T>A