Canonical Allele Identifier: CA1022857681
Gene: COL6A1 HGNC NCBI

Linked Data

dbSNP Id: rs2077813144
gnomAD v3: 21-45997610-T-A
gnomAD v4: 21-45997610-T-A
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45997610T>A , CM000683.2:g.45997610T>A GRCh38
NC_000021.8:g.47417524T>A , CM000683.1:g.47417524T>A GRCh37
NC_000021.7:g.46241952T>A NCBI36
NG_008674.1:g.20862T>A , LRG_475:g.20862T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000683550.1:n.237-90T>A
ENST00000361866.8:c.1462-90T>A MANE Select ENSP00000355180.3:n.1462-90T>A
ENST00000361866.7:c.1462-90T>A ENSP00000355180.3:n.1462-90T>A
ENST00000612273.1:c.1462-90T>A ENSP00000483630.1:n.1462-90T>A
NM_001848.2:c.1462-90T>A , LRG_475t1:c.1462-90T>A NP_001839.2:n.1462-90T>A
NM_001848.3:c.1462-90T>A MANE Select NP_001839.2:n.1462-90T>A
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