Canonical Allele Identifier: CA2188859

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237368868G>A , CM000664.2:g.237368868G>A	GRCh38
NC_000002.11:g.238277511G>A , CM000664.1:g.238277511G>A	GRCh37
NC_000002.10:g.237942250G>A	NCBI36
NG_008676.1:g.50340C>T , LRG_473:g.50340C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004369.4:c.4595C>T MANE Select	NP_004360.2:p.Ala1532Val
ENST00000295550.9:c.4595C>T MANE Select	ENSP00000295550.4:p.Ala1532Val
NM_004369.3:c.4595C>T , LRG_473t1:c.4595C>T	NP_004360.2:p.Ala1532Val
NM_057166.4:c.2774C>T	NP_476507.3:p.Ala925Val
NM_057166.5:c.2774C>T	NP_476507.3:p.Ala925Val
NM_057167.3:c.3977C>T	NP_476508.2:p.Ala1326Val
NM_057167.4:c.3977C>T	NP_476508.2:p.Ala1326Val
ENST00000295550.8:c.4595C>T	ENSP00000295550.4:p.Ala1532Val
ENST00000347401.7:c.2774C>T	ENSP00000315609.4:p.Ala925Val
ENST00000353578.8:c.3977C>T	ENSP00000315873.4:p.Ala1326Val
ENST00000353578.9:c.3977C>T	ENSP00000315873.4:p.Ala1326Val
ENST00000409809.5:c.3977C>T	ENSP00000386844.1:p.Ala1326Val
ENST00000472056.5:c.2774C>T	ENSP00000418285.1:p.Ala925Val
ENST00000684597.1:c.117-192C>T
XM_005246065.1:c.3995C>T	XP_005246122.1:p.Ala1332Val
XM_005246066.1:c.3374C>T	XP_005246123.1:p.Ala1125Val
XM_006712253.1:c.4286-192C>T	XP_006712316.1:n.4286-192C>T
XM_011510574.1:c.4592C>T	XP_011508876.1:p.Ala1531Val
XM_011510575.1:c.2189C>T	XP_011508877.1:p.Ala730Val
XM_017003304.1:c.2189C>T	XP_016858793.1:p.Ala730Val
XM_024452684.1:c.3374C>T	XP_024308452.1:p.Ala1125Val