Canonical Allele Identifier: CA2187445

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336302G>A , CM000664.2:g.237336302G>A	GRCh38
NC_000002.11:g.238244945G>A , CM000664.1:g.238244945G>A	GRCh37
NC_000002.10:g.237909684G>A	NCBI36
NG_008676.1:g.82906C>T , LRG_473:g.82906C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004369.4:c.8798C>T MANE Select	NP_004360.2:p.Pro2933Leu
ENST00000295550.9:c.8798C>T MANE Select	ENSP00000295550.4:p.Pro2933Leu
NM_004369.3:c.8798C>T , LRG_473t1:c.8798C>T	NP_004360.2:p.Pro2933Leu
NM_057166.4:c.6977C>T	NP_476507.3:p.Pro2326Leu
NM_057166.5:c.6977C>T	NP_476507.3:p.Pro2326Leu
NM_057167.3:c.8180C>T	NP_476508.2:p.Pro2727Leu
NM_057167.4:c.8180C>T	NP_476508.2:p.Pro2727Leu
ENST00000295550.8:c.8798C>T	ENSP00000295550.4:p.Pro2933Leu
ENST00000347401.7:c.6974C>T	ENSP00000315609.4:p.Pro2325Leu
ENST00000347401.8:c.1443C>T
ENST00000353578.8:c.8180C>T	ENSP00000315873.4:p.Pro2727Leu
ENST00000353578.9:c.8180C>T	ENSP00000315873.4:p.Pro2727Leu
ENST00000409809.5:c.8180C>T	ENSP00000386844.1:p.Pro2727Leu
ENST00000472056.5:c.6977C>T	ENSP00000418285.1:p.Pro2326Leu
ENST00000491769.1:n.5240C>T
ENST00000682957.1:c.925C>T
ENST00000684508.1:n.1065C>T
XM_005246065.1:c.8198C>T	XP_005246122.1:p.Pro2733Leu
XM_005246066.1:c.7577C>T	XP_005246123.1:p.Pro2526Leu
XM_006712253.1:c.8297C>T	XP_006712316.1:p.Pro2766Leu
XM_011510574.1:c.8795C>T	XP_011508876.1:p.Pro2932Leu
XM_011510575.1:c.6392C>T	XP_011508877.1:p.Pro2131Leu
XM_017003304.1:c.6392C>T	XP_016858793.1:p.Pro2131Leu
XM_024452684.1:c.7577C>T	XP_024308452.1:p.Pro2526Leu