Canonical Allele Identifier: CA2187716

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237342082G>A , CM000664.2:g.237342082G>A	GRCh38
NC_000002.11:g.238250725G>A , CM000664.1:g.238250725G>A	GRCh37
NC_000002.10:g.237915464G>A	NCBI36
NG_008676.1:g.77126C>T , LRG_473:g.77126C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004369.4:c.7748C>T MANE Select	NP_004360.2:p.Thr2583Met
ENST00000295550.9:c.7748C>T MANE Select	ENSP00000295550.4:p.Thr2583Met
NM_004369.3:c.7748C>T , LRG_473t1:c.7748C>T	NP_004360.2:p.Thr2583Met
NM_057166.4:c.5927C>T	NP_476507.3:p.Thr1976Met
NM_057166.5:c.5927C>T	NP_476507.3:p.Thr1976Met
NM_057167.3:c.7130C>T	NP_476508.2:p.Thr2377Met
NM_057167.4:c.7130C>T	NP_476508.2:p.Thr2377Met
ENST00000295550.8:c.7748C>T	ENSP00000295550.4:p.Thr2583Met
ENST00000347401.7:c.5924C>T	ENSP00000315609.4:p.Thr1975Met
ENST00000347401.8:c.393C>T
ENST00000353578.8:c.7130C>T	ENSP00000315873.4:p.Thr2377Met
ENST00000353578.9:c.7130C>T	ENSP00000315873.4:p.Thr2377Met
ENST00000409809.5:c.7130C>T	ENSP00000386844.1:p.Thr2377Met
ENST00000472056.5:c.5927C>T	ENSP00000418285.1:p.Thr1976Met
ENST00000491769.1:n.4190C>T
ENST00000684508.1:n.15C>T
XM_005246065.1:c.7148C>T	XP_005246122.1:p.Thr2383Met
XM_005246066.1:c.6527C>T	XP_005246123.1:p.Thr2176Met
XM_006712253.1:c.7247C>T	XP_006712316.1:p.Thr2416Met
XM_011510574.1:c.7745C>T	XP_011508876.1:p.Thr2582Met
XM_011510575.1:c.5342C>T	XP_011508877.1:p.Thr1781Met
XM_017003304.1:c.5342C>T	XP_016858793.1:p.Thr1781Met
XM_024452684.1:c.6527C>T	XP_024308452.1:p.Thr2176Met