Canonical Allele Identifier: CA410516438
Gene: COL6A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.47404377T>A (hg19) chr21:g.45984463T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45984463T>A , CM000683.2:g.45984463T>A GRCh38
NC_000021.8:g.47404377T>A , CM000683.1:g.47404377T>A GRCh37
NC_000021.7:g.46228805T>A NCBI36
NG_008674.1:g.7715T>A , LRG_475:g.7715T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000361866.8:c.422T>A MANE Select ENSP00000355180.3:p.Leu141His
ENST00000361866.7:c.422T>A ENSP00000355180.3:p.Leu141His
ENST00000612273.1:c.422T>A ENSP00000483630.1:p.Leu141His
NM_001848.2:c.422T>A , LRG_475t1:c.422T>A NP_001839.2:p.Leu141His
NM_001848.3:c.422T>A MANE Select NP_001839.2:p.Leu141His
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