Canonical Allele Identifier: CA410522683
Gene: COL6A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45990400T>G , CM000683.2:g.45990400T>G GRCh38
NC_000021.8:g.47410314T>G , CM000683.1:g.47410314T>G GRCh37
NC_000021.7:g.46234742T>G NCBI36
NG_008674.1:g.13652T>G , LRG_475:g.13652T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000361866.8:c.980T>G MANE Select ENSP00000355180.3:p.Ile327Ser
ENST00000361866.7:c.980T>G ENSP00000355180.3:p.Ile327Ser
ENST00000612273.1:c.980T>G ENSP00000483630.1:p.Ile327Ser
NM_001848.2:c.980T>G , LRG_475t1:c.980T>G NP_001839.2:p.Ile327Ser
NM_001848.3:c.980T>G MANE Select NP_001839.2:p.Ile327Ser