Canonical Allele Identifier: CA16043157
Gene: COL6A1 HGNC NCBI
MyVariant.info:
GRCh38 chr21:g.45992022G>C
GRCh37 chr21:g.47411936G>C
Revel Score:
ENST00000361866 (MANE Select) 0.293
ENST00000538397 0.293
ClinVar RCV:
RCV000414276
ClinVar Variation:
372826
dbSNP:
1057518005
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45992022G>C , CM000683.2:g.45992022G>C GRCh38
NC_000021.8:g.47411936G>C , CM000683.1:g.47411936G>C GRCh37
NC_000021.7:g.46236364G>C NCBI36
NG_008674.1:g.15274G>C , LRG_475:g.15274G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000361866.8:c.1132G>C MANE Select ENSP00000355180.3:p.Ala378Pro
ENST00000361866.7:c.1132G>C ENSP00000355180.3:p.Ala378Pro
ENST00000612273.1:c.1132G>C ENSP00000483630.1:p.Ala378Pro
NM_001848.2:c.1132G>C , LRG_475t1:c.1132G>C NP_001839.2:p.Ala378Pro
NM_001848.3:c.1132G>C MANE Select NP_001839.2:p.Ala378Pro
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