Canonical Allele Identifier: CA410533579

Gene: COL6A1

Linked Data

• MyVariant Identifiers: chr21:g.47421253T>C (hg19) ; chr21:g.46001339T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46001339T>C , CM000683.2:g.46001339T>C	GRCh38
NC_000021.8:g.47421253T>C , CM000683.1:g.47421253T>C	GRCh37
NC_000021.7:g.46245681T>C	NCBI36
NG_008674.1:g.24591T>C , LRG_475:g.24591T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463060.6:n.308T>C
ENST00000612273.2:c.35T>C
ENST00000682634.1:c.35T>C
ENST00000361866.8:c.1909T>C MANE Select	ENSP00000355180.3:p.Phe637Leu
ENST00000361866.7:c.1909T>C	ENSP00000355180.3:p.Phe637Leu
ENST00000463060.5:n.308T>C
ENST00000498614.5:n.143T>C
ENST00000612273.1:c.1903T>C	ENSP00000483630.1:p.Phe635Leu
NM_001848.2:c.1909T>C , LRG_475t1:c.1909T>C	NP_001839.2:p.Phe637Leu
NM_001848.3:c.1909T>C MANE Select	NP_001839.2:p.Phe637Leu