Canonical Allele Identifier: CA410533731

Gene: COL6A1

Linked Data

• dbSNP Id: rs2077844061
• gnomAD v3: 21-46001367-G-C
• gnomAD v4: 21-46001367-G-C
• MyVariant Identifiers: chr21:g.47421281G>C (hg19) ; chr21:g.46001367G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46001367G>C , CM000683.2:g.46001367G>C	GRCh38
NC_000021.8:g.47421281G>C , CM000683.1:g.47421281G>C	GRCh37
NC_000021.7:g.46245709G>C	NCBI36
NG_008674.1:g.24619G>C , LRG_475:g.24619G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463060.6:n.336G>C
ENST00000612273.2:c.63G>C
ENST00000682634.1:c.63G>C
ENST00000361866.8:c.1937G>C MANE Select	ENSP00000355180.3:p.Ser646Thr
ENST00000361866.7:c.1937G>C	ENSP00000355180.3:p.Ser646Thr
ENST00000463060.5:n.336G>C
ENST00000498614.5:n.171G>C
ENST00000612273.1:c.1931G>C	ENSP00000483630.1:p.Ser644Thr
NM_001848.2:c.1937G>C , LRG_475t1:c.1937G>C	NP_001839.2:p.Ser646Thr
NM_001848.3:c.1937G>C MANE Select	NP_001839.2:p.Ser646Thr