Canonical Allele Identifier: CA410516000
Gene: COL6A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.47404271A>C (hg19) chr21:g.45984357A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45984357A>C , CM000683.2:g.45984357A>C GRCh38
NC_000021.8:g.47404271A>C , CM000683.1:g.47404271A>C GRCh37
NC_000021.7:g.46228699A>C NCBI36
NG_008674.1:g.7609A>C , LRG_475:g.7609A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000361866.8:c.316A>C MANE Select ENSP00000355180.3:p.Met106Leu
ENST00000361866.7:c.316A>C ENSP00000355180.3:p.Met106Leu
ENST00000612273.1:c.316A>C ENSP00000483630.1:p.Met106Leu
NM_001848.2:c.316A>C , LRG_475t1:c.316A>C NP_001839.2:p.Met106Leu
NM_001848.3:c.316A>C MANE Select NP_001839.2:p.Met106Leu
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