Canonical Allele Identifier: CA2392434357
Gene: COL6A1 HGNC NCBI

Linked Data

dbSNP Id: rs1484435435

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45990618G>T , CM000683.2:g.45990618G>T GRCh38
NC_000021.8:g.47410532G>T , CM000683.1:g.47410532G>T GRCh37
NC_000021.7:g.46234960G>T NCBI36
NG_008674.1:g.13870G>T , LRG_475:g.13870G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000361866.8:c.1003-155G>T MANE Select ENSP00000355180.3:n.1003-155G>T
ENST00000361866.7:c.1003-155G>T ENSP00000355180.3:n.1003-155G>T
ENST00000612273.1:c.1003-155G>T ENSP00000483630.1:n.1003-155G>T
NM_001848.2:c.1003-155G>T , LRG_475t1:c.1003-155G>T NP_001839.2:n.1003-155G>T
NM_001848.3:c.1003-155G>T MANE Select NP_001839.2:n.1003-155G>T