Canonical Allele Identifier: CA657676033
Gene: COL6A1 HGNC NCBI

Linked Data

COSMIC: COSN23015631
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46001200C>T , CM000683.2:g.46001200C>T GRCh38
NC_000021.8:g.47421114C>T , CM000683.1:g.47421114C>T GRCh37
NC_000021.7:g.46245542C>T NCBI36
NG_008674.1:g.24452C>T , LRG_475:g.24452C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000463060.6:n.221+49C>T
ENST00000361866.8:c.1823-53C>T MANE Select ENSP00000355180.3:n.1823-53C>T
ENST00000361866.7:c.1823-53C>T ENSP00000355180.3:n.1823-53C>T
ENST00000463060.5:n.221+49C>T
ENST00000498614.5:n.4C>T
ENST00000612273.1:c.1817-53C>T ENSP00000483630.1:n.1817-53C>T
NM_001848.2:c.1823-53C>T , LRG_475t1:c.1823-53C>T NP_001839.2:n.1823-53C>T
NM_001848.3:c.1823-53C>T MANE Select NP_001839.2:n.1823-53C>T
Search 100 bp 5'
Search 100 bp 3'