Canonical Allele Identifier: CA2392431854
Community Standard Title: NM_001848.3(COL6A1):c.738G= (p.Val246=)
Gene: COL6A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45987175G= , CM000683.2:g.45987175G= GRCh38
NC_000021.8:g.47407089G= , CM000683.1:g.47407089G= GRCh37
NC_000021.7:g.46231517G= NCBI36
NG_008674.1:g.10427G= , LRG_475:g.10427G=

Transcript Alleles

HGVS Amino-acid Change
NM_001848.3:c.738G= MANE Select NP_001839.2:p.Val246=
ENST00000361866.8:c.738G= MANE Select ENSP00000355180.3:p.Val246=
NM_001848.2:c.738G= , LRG_475t1:c.738G= NP_001839.2:p.Val246=
ENST00000361866.7:c.738G= ENSP00000355180.3:p.Val246=
ENST00000492851.1:n.67G=
ENST00000612273.1:c.738G= ENSP00000483630.1:p.Val246=