Canonical Allele Identifier: CA2392440361
Gene: COL6A1 HGNC NCBI

Linked Data

dbSNP Id: rs1569519026
gnomAD v4: 21-46001199-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46001199G>T , CM000683.2:g.46001199G>T GRCh38
NC_000021.8:g.47421113G>T , CM000683.1:g.47421113G>T GRCh37
NC_000021.7:g.46245541G>T NCBI36
NG_008674.1:g.24451G>T , LRG_475:g.24451G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000463060.6:n.221+48G>T
ENST00000361866.8:c.1823-54G>T MANE Select ENSP00000355180.3:n.1823-54G>T
ENST00000361866.7:c.1823-54G>T ENSP00000355180.3:n.1823-54G>T
ENST00000463060.5:n.221+48G>T
ENST00000498614.5:n.3G>T
ENST00000612273.1:c.1817-54G>T ENSP00000483630.1:n.1817-54G>T
NM_001848.2:c.1823-54G>T , LRG_475t1:c.1823-54G>T NP_001839.2:n.1823-54G>T
NM_001848.3:c.1823-54G>T MANE Select NP_001839.2:n.1823-54G>T
Search 100 bp 5'
Search 100 bp 3'