Canonical Allele Identifier: CA236164
Gene: COL6A1 HGNC NCBI
MyVariant.info:
GRCh38 chr21:g.45982664A>C
GRCh37 chr21:g.47402578A>C
Revel Score:
ENST00000361866 (MANE Select) 0.967
ENST00000538397 0.967
ENST00000546256 0.967
ClinVar RCV:
RCV000171351
ClinVar Variation:
191167
dbSNP:
786205555
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45982664A>C , CM000683.2:g.45982664A>C GRCh38
NC_000021.8:g.47402578A>C , CM000683.1:g.47402578A>C GRCh37
NC_000021.7:g.46227006A>C NCBI36
NG_008674.1:g.5916A>C , LRG_475:g.5916A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000361866.8:c.128A>C MANE Select ENSP00000355180.3:p.Asp43Ala
ENST00000361866.7:c.128A>C ENSP00000355180.3:p.Asp43Ala
ENST00000612273.1:c.128A>C ENSP00000483630.1:p.Asp43Ala
NM_001848.2:c.128A>C , LRG_475t1:c.128A>C NP_001839.2:p.Asp43Ala
NM_001848.3:c.128A>C MANE Select NP_001839.2:p.Asp43Ala
Search 100 bp 5'
Search 100 bp 3'