Canonical Allele Identifier: CA10069629

Gene: COL6A1

Linked Data

• ClinVar Variation Id: 500103
• ClinVar RCV Id: RCV000596884 ; RCV001303771
• dbSNP Id: rs199867193
• ExAC: 21:47406862 C / T
• gnomAD v2: 21-47406862-C-T
• gnomAD v3: 21-45986948-C-T
• gnomAD v4: 21-45986948-C-T
• MyVariant Identifiers: chr21:g.47406862C>T (hg19) ; chr21:g.45986948C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45986948C>T , CM000683.2:g.45986948C>T	GRCh38
NC_000021.8:g.47406862C>T , CM000683.1:g.47406862C>T	GRCh37
NC_000021.7:g.46231290C>T	NCBI36
NG_008674.1:g.10200C>T , LRG_475:g.10200C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.593C>T MANE Select	ENSP00000355180.3:p.Pro198Leu
ENST00000361866.7:c.593C>T	ENSP00000355180.3:p.Pro198Leu
ENST00000612273.1:c.593C>T	ENSP00000483630.1:p.Pro198Leu
NM_001848.2:c.593C>T , LRG_475t1:c.593C>T	NP_001839.2:p.Pro198Leu
NM_001848.3:c.593C>T MANE Select	NP_001839.2:p.Pro198Leu