Canonical Allele Identifier: CA512711146

Gene: COL6A1

Linked Data

• MyVariant Identifiers: chr21:g.47407541G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45987627G>C , CM000683.2:g.45987627G>C	GRCh38
NC_000021.8:g.47407541G>C , CM000683.1:g.47407541G>C	GRCh37
NC_000021.7:g.46231969G>C	NCBI36
NG_008674.1:g.10879G>C , LRG_475:g.10879G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.777G>C MANE Select	ENSP00000355180.3:p.Pro259=
ENST00000361866.7:c.777G>C	ENSP00000355180.3:p.Pro259=
ENST00000492851.1:n.429G>C
ENST00000612273.1:c.777G>C	ENSP00000483630.1:p.Pro259=
NM_001848.2:c.777G>C , LRG_475t1:c.777G>C	NP_001839.2:p.Pro259=
NM_001848.3:c.777G>C MANE Select	NP_001839.2:p.Pro259=