Canonical Allele Identifier: CA2392440468
Gene: COL6A1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46001391G= , CM000683.2:g.46001391G= GRCh38
NC_000021.8:g.47421305G= , CM000683.1:g.47421305G= GRCh37
NC_000021.7:g.46245733G= NCBI36
NG_008674.1:g.24643G= , LRG_475:g.24643G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000463060.6:n.355+5G=
ENST00000612273.2:c.82+5G=
ENST00000682634.1:c.82+5G=
ENST00000361866.8:c.1956+5G= MANE Select ENSP00000355180.3:n.1956+5G=
ENST00000361866.7:c.1956+5G= ENSP00000355180.3:n.1956+5G=
ENST00000463060.5:n.355+5G=
ENST00000498614.5:n.190+5G=
ENST00000612273.1:c.1950+5G= ENSP00000483630.1:n.1950+5G=
NM_001848.2:c.1956+5G= , LRG_475t1:c.1956+5G= NP_001839.2:n.1956+5G=
NM_001848.3:c.1956+5G= MANE Select NP_001839.2:n.1956+5G=
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