Canonical Allele Identifier: CA512718619
Gene: COL6A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.47421228G>C (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46001314G>C , CM000683.2:g.46001314G>C GRCh38
NC_000021.8:g.47421228G>C , CM000683.1:g.47421228G>C GRCh37
NC_000021.7:g.46245656G>C NCBI36
NG_008674.1:g.24566G>C , LRG_475:g.24566G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000463060.6:n.283G>C
ENST00000612273.2:c.10G>C
ENST00000682634.1:c.10G>C
ENST00000361866.8:c.1884G>C MANE Select ENSP00000355180.3:p.Leu628=
ENST00000361866.7:c.1884G>C ENSP00000355180.3:p.Leu628=
ENST00000463060.5:n.283G>C
ENST00000498614.5:n.118G>C
ENST00000612273.1:c.1878G>C ENSP00000483630.1:p.Leu626=
NM_001848.2:c.1884G>C , LRG_475t1:c.1884G>C NP_001839.2:p.Leu628=
NM_001848.3:c.1884G>C MANE Select NP_001839.2:p.Leu628=
Search 100 bp 5'
Search 100 bp 3'