Canonical Allele Identifier: CA2188811

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237368635T>C , CM000664.2:g.237368635T>C	GRCh38
NC_000002.11:g.238277278T>C , CM000664.1:g.238277278T>C	GRCh37
NC_000002.10:g.237942017T>C	NCBI36
NG_008676.1:g.50573A>G , LRG_473:g.50573A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004369.4:c.4828A>G MANE Select	NP_004360.2:p.Met1610Val
ENST00000295550.9:c.4828A>G MANE Select	ENSP00000295550.4:p.Met1610Val
NM_004369.3:c.4828A>G , LRG_473t1:c.4828A>G	NP_004360.2:p.Met1610Val
NM_057166.4:c.3007A>G	NP_476507.3:p.Met1003Val
NM_057166.5:c.3007A>G	NP_476507.3:p.Met1003Val
NM_057167.3:c.4210A>G	NP_476508.2:p.Met1404Val
NM_057167.4:c.4210A>G	NP_476508.2:p.Met1404Val
ENST00000295550.8:c.4828A>G	ENSP00000295550.4:p.Met1610Val
ENST00000347401.7:c.3007A>G	ENSP00000315609.4:p.Met1003Val
ENST00000353578.8:c.4210A>G	ENSP00000315873.4:p.Met1404Val
ENST00000353578.9:c.4210A>G	ENSP00000315873.4:p.Met1404Val
ENST00000409809.5:c.4210A>G	ENSP00000386844.1:p.Met1404Val
ENST00000472056.5:c.3007A>G	ENSP00000418285.1:p.Met1003Val
ENST00000684597.1:c.158A>G
XM_005246065.1:c.4228A>G	XP_005246122.1:p.Met1410Val
XM_005246066.1:c.3607A>G	XP_005246123.1:p.Met1203Val
XM_006712253.1:c.4327A>G	XP_006712316.1:p.Met1443Val
XM_011510574.1:c.4825A>G	XP_011508876.1:p.Met1609Val
XM_011510575.1:c.2422A>G	XP_011508877.1:p.Met808Val
XM_017003304.1:c.2422A>G	XP_016858793.1:p.Met808Val
XM_024452684.1:c.3607A>G	XP_024308452.1:p.Met1203Val