Canonical Allele Identifier: CA512712345
Gene: COL6A1 HGNC NCBI

Linked Data

gnomAD v4: 21-45989110-A-G
MyVariant Identifiers: chr21:g.47409024A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45989110A>G , CM000683.2:g.45989110A>G GRCh38
NC_000021.8:g.47409024A>G , CM000683.1:g.47409024A>G GRCh37
NC_000021.7:g.46233452A>G NCBI36
NG_008674.1:g.12362A>G , LRG_475:g.12362A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000361866.8:c.831A>G MANE Select ENSP00000355180.3:p.Pro277=
ENST00000361866.7:c.831A>G ENSP00000355180.3:p.Pro277=
ENST00000612273.1:c.831A>G ENSP00000483630.1:p.Pro277=
NM_001848.2:c.831A>G , LRG_475t1:c.831A>G NP_001839.2:p.Pro277=
NM_001848.3:c.831A>G MANE Select NP_001839.2:p.Pro277=
Search 100 bp 5'
Search 100 bp 3'