Canonical Allele Identifier: CA3261491
Gene: ITGA1 HGNC NCBI
COSMIC:
COSM6353439 (not active)
MyVariant.info:
GRCh38 chr5:g.52861540T>C
GRCh37 chr5:g.52157374T>C
gnomAD v2:
5:52157374 T / C
gnomAD v3:
5:52861540 T / C
gnomAD v4:
chr5-52861540-T-C
Joint Max Group AF 0.8433136 (AFR)
Genomes Max Group AF 0.83796193 (AFR)
Exomes Max Group AF 0.84485235 (AFR)
dbSNP:
2447867
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.52861540T>C , CM000667.2:g.52861540T>C GRCh38
NC_000005.9:g.52157374T>C , CM000667.1:g.52157374T>C GRCh37
NC_000005.8:g.52193131T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000282588.7:c.276T>C MANE Select ENSP00000282588.5:p.Cys92=
ENST00000650673.1:c.276T>C ENSP00000498529.1:p.Cys92=
ENST00000282588.6:c.276T>C ENSP00000282588.5:p.Cys92=
NM_181501.1:c.276T>C NP_852478.1:p.Cys92=
NM_181501.2:c.276T>C MANE Select NP_852478.1:p.Cys92=
Search 100 bp 5'
Search 100 bp 3'