Canonical Allele Identifier: CA10069527
Gene: COL6A1 HGNC NCBI

Linked Data

dbSNP Id: rs747604411
ExAC: 21:47404275 C / G
gnomAD v2: 21-47404275-C-G
gnomAD v4: 21-45984361-C-G
MyVariant Identifiers: chr21:g.47404275C>G (hg19) chr21:g.45984361C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45984361C>G , CM000683.2:g.45984361C>G GRCh38
NC_000021.8:g.47404275C>G , CM000683.1:g.47404275C>G GRCh37
NC_000021.7:g.46228703C>G NCBI36
NG_008674.1:g.7613C>G , LRG_475:g.7613C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000361866.8:c.320C>G MANE Select ENSP00000355180.3:p.Pro107Arg
ENST00000361866.7:c.320C>G ENSP00000355180.3:p.Pro107Arg
ENST00000612273.1:c.320C>G ENSP00000483630.1:p.Pro107Arg
NM_001848.2:c.320C>G , LRG_475t1:c.320C>G NP_001839.2:p.Pro107Arg
NM_001848.3:c.320C>G MANE Select NP_001839.2:p.Pro107Arg
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