Canonical Allele Identifier: CA410528698
Gene: COL6A1 HGNC NCBI

Linked Data

gnomAD v4: 21-45997713-C-G
MyVariant Identifiers: chr21:g.47417627C>G (hg19) chr21:g.45997713C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45997713C>G , CM000683.2:g.45997713C>G GRCh38
NC_000021.8:g.47417627C>G , CM000683.1:g.47417627C>G GRCh37
NC_000021.7:g.46242055C>G NCBI36
NG_008674.1:g.20965C>G , LRG_475:g.20965C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000683550.1:n.250C>G
ENST00000361866.8:c.1475C>G MANE Select ENSP00000355180.3:p.Ala492Gly
ENST00000361866.7:c.1475C>G ENSP00000355180.3:p.Ala492Gly
ENST00000612273.1:c.1475C>G ENSP00000483630.1:p.Ala492Gly
NM_001848.2:c.1475C>G , LRG_475t1:c.1475C>G NP_001839.2:p.Ala492Gly
NM_001848.3:c.1475C>G MANE Select NP_001839.2:p.Ala492Gly
Search 100 bp 5'
Search 100 bp 3'