Canonical Allele Identifier: CA10070536

Gene: COL6A1

Linked Data

• ClinVar Variation Id: 289469
• ClinVar RCV Id: RCV000380652 ; RCV001298873
• dbSNP Id: rs759442615
• ExAC: 21:47419593 C / T
• gnomAD v2: 21-47419593-C-T
• gnomAD v3: 21-45999679-C-T
• gnomAD v4: 21-45999679-C-T
• COSMIC: COSM2822122
• MyVariant Identifiers: chr21:g.47419593C>T (hg19) ; chr21:g.45999679C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45999679C>T , CM000683.2:g.45999679C>T	GRCh38
NC_000021.8:g.47419593C>T , CM000683.1:g.47419593C>T	GRCh37
NC_000021.7:g.46244021C>T	NCBI36
NG_008674.1:g.22931C>T , LRG_475:g.22931C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1763C>T MANE Select	ENSP00000355180.3:p.Pro588Leu
ENST00000361866.7:c.1763C>T	ENSP00000355180.3:p.Pro588Leu
ENST00000466285.1:n.280C>T
ENST00000612273.1:c.1763C>T	ENSP00000483630.1:p.Pro588Leu
NM_001848.2:c.1763C>T , LRG_475t1:c.1763C>T	NP_001839.2:p.Pro588Leu
NM_001848.3:c.1763C>T MANE Select	NP_001839.2:p.Pro588Leu