Canonical Allele Identifier: CA410528668
Gene: COL6A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.47417621G>C (hg19) chr21:g.45997707G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45997707G>C , CM000683.2:g.45997707G>C GRCh38
NC_000021.8:g.47417621G>C , CM000683.1:g.47417621G>C GRCh37
NC_000021.7:g.46242049G>C NCBI36
NG_008674.1:g.20959G>C , LRG_475:g.20959G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000683550.1:n.244G>C
ENST00000361866.8:c.1469G>C MANE Select ENSP00000355180.3:p.Arg490Thr
ENST00000361866.7:c.1469G>C ENSP00000355180.3:p.Arg490Thr
ENST00000612273.1:c.1469G>C ENSP00000483630.1:p.Arg490Thr
NM_001848.2:c.1469G>C , LRG_475t1:c.1469G>C NP_001839.2:p.Arg490Thr
NM_001848.3:c.1469G>C MANE Select NP_001839.2:p.Arg490Thr
Search 100 bp 5'
Search 100 bp 3'