Canonical Allele Identifier: CA275469

Gene: COL6A1

Linked Data

• ClinVar Variation Id: 202178
• ClinVar RCV Id: RCV000184024 ; RCV000731127
• dbSNP Id: rs201093313
• ExAC: 21:47409014 C / T
• gnomAD v2: 21-47409014-C-T
• gnomAD v3: 21-45989100-C-T
• gnomAD v4: 21-45989100-C-T
• MyVariant Identifiers: chr21:g.47409014C>T (hg19) ; chr21:g.45989100C>T (hg38)
• PubMed: PMID:15689448 ; PMID:20301468

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45989100C>T , CM000683.2:g.45989100C>T	GRCh38
NC_000021.8:g.47409014C>T , CM000683.1:g.47409014C>T	GRCh37
NC_000021.7:g.46233442C>T	NCBI36
NG_008674.1:g.12352C>T , LRG_475:g.12352C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000361866.8:c.821C>T MANE Select	ENSP00000355180.3:p.Pro274Leu
ENST00000361866.7:c.821C>T	ENSP00000355180.3:p.Pro274Leu
ENST00000612273.1:c.821C>T	ENSP00000483630.1:p.Pro274Leu
NM_001848.2:c.821C>T , LRG_475t1:c.821C>T	NP_001839.2:p.Pro274Leu
NM_001848.3:c.821C>T MANE Select	NP_001839.2:p.Pro274Leu