Canonical Allele Identifier: CA2392438086
Gene: COL6A1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45997608G= , CM000683.2:g.45997608G= GRCh38
NC_000021.8:g.47417522G= , CM000683.1:g.47417522G= GRCh37
NC_000021.7:g.46241950G= NCBI36
NG_008674.1:g.20860G= , LRG_475:g.20860G=

Transcript Alleles

HGVS Amino-acid change
ENST00000683550.1:n.237-92G=
ENST00000361866.8:c.1462-92G= MANE Select ENSP00000355180.3:n.1462-92G=
ENST00000361866.7:c.1462-92G= ENSP00000355180.3:n.1462-92G=
ENST00000612273.1:c.1462-92G= ENSP00000483630.1:n.1462-92G=
NM_001848.2:c.1462-92G= , LRG_475t1:c.1462-92G= NP_001839.2:n.1462-92G=
NM_001848.3:c.1462-92G= MANE Select NP_001839.2:n.1462-92G=
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