Canonical Allele Identifier: CA10069746

Gene: COL6A1

Linked Data

• ClinVar Variation Id: 290527
• ClinVar RCV Id: RCV000726504 ; RCV003517178
• dbSNP Id: rs767905829
• ExAC: 21:47407540 C / T
• gnomAD v2: 21-47407540-C-T
• gnomAD v3: 21-45987626-C-T
• gnomAD v4: 21-45987626-C-T
• MyVariant Identifiers: chr21:g.47407540C>T (hg19) ; chr21:g.45987626C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45987626C>T , CM000683.2:g.45987626C>T	GRCh38
NC_000021.8:g.47407540C>T , CM000683.1:g.47407540C>T	GRCh37
NC_000021.7:g.46231968C>T	NCBI36
NG_008674.1:g.10878C>T , LRG_475:g.10878C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.776C>T MANE Select	ENSP00000355180.3:p.Pro259Leu
ENST00000361866.7:c.776C>T	ENSP00000355180.3:p.Pro259Leu
ENST00000492851.1:n.428C>T
ENST00000612273.1:c.776C>T	ENSP00000483630.1:p.Pro259Leu
NM_001848.2:c.776C>T , LRG_475t1:c.776C>T	NP_001839.2:p.Pro259Leu
NM_001848.3:c.776C>T MANE Select	NP_001839.2:p.Pro259Leu