Canonical Allele Identifier: CA638178961

Gene: COL6A1

Linked Data

• dbSNP Id: rs541226765
• gnomAD v2: 21-47410495-G-T
• gnomAD v3: 21-45990581-G-T
• gnomAD v4: 21-45990581-G-T
• MyVariant Identifiers: chr21:g.47410495G>T (hg19) ; chr21:g.45990581G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990581G>T , CM000683.2:g.45990581G>T	GRCh38
NC_000021.8:g.47410495G>T , CM000683.1:g.47410495G>T	GRCh37
NC_000021.7:g.46234923G>T	NCBI36
NG_008674.1:g.13833G>T , LRG_475:g.13833G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1002+159G>T MANE Select	ENSP00000355180.3:n.1002+159G>T
ENST00000361866.7:c.1002+159G>T	ENSP00000355180.3:n.1002+159G>T
ENST00000612273.1:c.1002+159G>T	ENSP00000483630.1:n.1002+159G>T
NM_001848.2:c.1002+159G>T , LRG_475t1:c.1002+159G>T	NP_001839.2:n.1002+159G>T
NM_001848.3:c.1002+159G>T MANE Select	NP_001839.2:n.1002+159G>T