Canonical Allele Identifier: CA410515884
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1997344
ClinVar RCV Id: RCV002823963
MyVariant Identifiers: chr21:g.47404233A>G (hg19) chr21:g.45984319A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45984319A>G , CM000683.2:g.45984319A>G GRCh38
NC_000021.8:g.47404233A>G , CM000683.1:g.47404233A>G GRCh37
NC_000021.7:g.46228661A>G NCBI36
NG_008674.1:g.7571A>G , LRG_475:g.7571A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000361866.8:c.278A>G MANE Select ENSP00000355180.3:p.Tyr93Cys
ENST00000361866.7:c.278A>G ENSP00000355180.3:p.Tyr93Cys
ENST00000612273.1:c.278A>G ENSP00000483630.1:p.Tyr93Cys
NM_001848.2:c.278A>G , LRG_475t1:c.278A>G NP_001839.2:p.Tyr93Cys
NM_001848.3:c.278A>G MANE Select NP_001839.2:p.Tyr93Cys
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