Canonical Allele Identifier: CA351216621

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238268771G>A (hg19) ; chr2:g.237360128G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237360128G>A , CM000664.2:g.237360128G>A	GRCh38
NC_000002.11:g.238268771G>A , CM000664.1:g.238268771G>A	GRCh37
NC_000002.10:g.237933510G>A	NCBI36
NG_008676.1:g.59080C>T , LRG_473:g.59080C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353578.9:c.5624C>T	ENSP00000315873.4:p.Thr1875Ile
ENST00000295550.9:c.6242C>T MANE Select	ENSP00000295550.4:p.Thr2081Ile
ENST00000295550.8:c.6242C>T	ENSP00000295550.4:p.Thr2081Ile
ENST00000347401.7:c.4421C>T	ENSP00000315609.4:p.Thr1474Ile
ENST00000353578.8:c.5624C>T	ENSP00000315873.4:p.Thr1875Ile
ENST00000409809.5:c.5624C>T	ENSP00000386844.1:p.Thr1875Ile
ENST00000472056.5:c.4421C>T	ENSP00000418285.1:p.Thr1474Ile
NM_004369.3:c.6242C>T , LRG_473t1:c.6242C>T	NP_004360.2:p.Thr2081Ile
NM_057166.4:c.4421C>T	NP_476507.3:p.Thr1474Ile
NM_057167.3:c.5624C>T	NP_476508.2:p.Thr1875Ile
XM_005246065.1:c.5642C>T	XP_005246122.1:p.Thr1881Ile
XM_005246066.1:c.5021C>T	XP_005246123.1:p.Thr1674Ile
XM_006712253.1:c.5741C>T	XP_006712316.1:p.Thr1914Ile
XM_011510574.1:c.6239C>T	XP_011508876.1:p.Thr2080Ile
XM_011510575.1:c.3836C>T	XP_011508877.1:p.Thr1279Ile
XM_017003304.1:c.3836C>T	XP_016858793.1:p.Thr1279Ile
XM_024452684.1:c.5021C>T	XP_024308452.1:p.Thr1674Ile
NM_004369.4:c.6242C>T MANE Select	NP_004360.2:p.Thr2081Ile
NM_057166.5:c.4421C>T	NP_476507.3:p.Thr1474Ile
NM_057167.4:c.5624C>T	NP_476508.2:p.Thr1875Ile