Canonical Allele Identifier: CA749841863

Gene: COL6A1

Linked Data

• dbSNP Id: rs1258072493
• gnomAD v4: 21-46001480-C-T
• MyVariant Identifiers: chr21:g.47421394C>T (hg19) ; chr21:g.46001480C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46001480C>T , CM000683.2:g.46001480C>T	GRCh38
NC_000021.8:g.47421394C>T , CM000683.1:g.47421394C>T	GRCh37
NC_000021.7:g.46245822C>T	NCBI36
NG_008674.1:g.24732C>T , LRG_475:g.24732C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463060.6:n.355+94C>T
ENST00000612273.2:c.82+94C>T
ENST00000682634.1:c.82+94C>T
ENST00000361866.8:c.1956+94C>T MANE Select	ENSP00000355180.3:n.1956+94C>T
ENST00000361866.7:c.1956+94C>T	ENSP00000355180.3:n.1956+94C>T
ENST00000463060.5:n.355+94C>T
ENST00000498614.5:n.190+94C>T
ENST00000612273.1:c.1950+94C>T	ENSP00000483630.1:n.1950+94C>T
NM_001848.2:c.1956+94C>T , LRG_475t1:c.1956+94C>T	NP_001839.2:n.1956+94C>T
NM_001848.3:c.1956+94C>T MANE Select	NP_001839.2:n.1956+94C>T