Canonical Allele Identifier: CA512718648

Gene: COL6A1

Linked Data

• gnomAD v4: 21-46001365-G-T
• MyVariant Identifiers: chr21:g.47421279G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46001365G>T , CM000683.2:g.46001365G>T	GRCh38
NC_000021.8:g.47421279G>T , CM000683.1:g.47421279G>T	GRCh37
NC_000021.7:g.46245707G>T	NCBI36
NG_008674.1:g.24617G>T , LRG_475:g.24617G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463060.6:n.334G>T
ENST00000612273.2:c.61G>T
ENST00000682634.1:c.61G>T
ENST00000361866.8:c.1935G>T MANE Select	ENSP00000355180.3:p.Leu645=
ENST00000361866.7:c.1935G>T	ENSP00000355180.3:p.Leu645=
ENST00000463060.5:n.334G>T
ENST00000498614.5:n.169G>T
ENST00000612273.1:c.1929G>T	ENSP00000483630.1:p.Leu643=
NM_001848.2:c.1935G>T , LRG_475t1:c.1935G>T	NP_001839.2:p.Leu645=
NM_001848.3:c.1935G>T MANE Select	NP_001839.2:p.Leu645=