Canonical Allele Identifier: CA2187948

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237346544T>G , CM000664.2:g.237346544T>G	GRCh38
NC_000002.11:g.238255187T>G , CM000664.1:g.238255187T>G	GRCh37
NC_000002.10:g.237919926T>G	NCBI36
NG_008676.1:g.72664A>C , LRG_473:g.72664A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004369.4:c.7051A>C MANE Select	NP_004360.2:p.Ile2351Leu
ENST00000295550.9:c.7051A>C MANE Select	ENSP00000295550.4:p.Ile2351Leu
NM_004369.3:c.7051A>C , LRG_473t1:c.7051A>C	NP_004360.2:p.Ile2351Leu
NM_057166.4:c.5230A>C	NP_476507.3:p.Ile1744Leu
NM_057166.5:c.5230A>C	NP_476507.3:p.Ile1744Leu
NM_057167.3:c.6433A>C	NP_476508.2:p.Ile2145Leu
NM_057167.4:c.6433A>C	NP_476508.2:p.Ile2145Leu
ENST00000295550.8:c.7051A>C	ENSP00000295550.4:p.Ile2351Leu
ENST00000347401.7:c.5230A>C	ENSP00000315609.4:p.Ile1744Leu
ENST00000353578.8:c.6433A>C	ENSP00000315873.4:p.Ile2145Leu
ENST00000353578.9:c.6433A>C	ENSP00000315873.4:p.Ile2145Leu
ENST00000409809.5:c.6433A>C	ENSP00000386844.1:p.Ile2145Leu
ENST00000472056.5:c.5230A>C	ENSP00000418285.1:p.Ile1744Leu
ENST00000491769.1:n.1305A>C
XM_005246065.1:c.6451A>C	XP_005246122.1:p.Ile2151Leu
XM_005246066.1:c.5830A>C	XP_005246123.1:p.Ile1944Leu
XM_006712253.1:c.6550A>C	XP_006712316.1:p.Ile2184Leu
XM_011510574.1:c.7048A>C	XP_011508876.1:p.Ile2350Leu
XM_011510575.1:c.4645A>C	XP_011508877.1:p.Ile1549Leu
XM_017003304.1:c.4645A>C	XP_016858793.1:p.Ile1549Leu
XM_024452684.1:c.5830A>C	XP_024308452.1:p.Ile1944Leu