Canonical Allele Identifier: CA2187339

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237334680C>A , CM000664.2:g.237334680C>A	GRCh38
NC_000002.11:g.238243323C>A , CM000664.1:g.238243323C>A	GRCh37
NC_000002.10:g.237908062C>A	NCBI36
NG_008676.1:g.84528G>T , LRG_473:g.84528G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1611-1132G>T
ENST00000353578.9:c.8557G>T	ENSP00000315873.4:p.Val2853Phe
ENST00000682957.1:c.1302G>T
ENST00000683348.1:c.43G>T	ENSP00000508058.1:p.Val15Phe
ENST00000295550.9:c.9175G>T MANE Select	ENSP00000295550.4:p.Val3059Phe
ENST00000295550.8:c.9175G>T	ENSP00000295550.4:p.Val3059Phe
ENST00000347401.7:c.7351G>T	ENSP00000315609.4:p.Val2451Phe
ENST00000353578.8:c.8557G>T	ENSP00000315873.4:p.Val2853Phe
ENST00000409809.5:c.8557G>T	ENSP00000386844.1:p.Val2853Phe
ENST00000472056.5:c.7354G>T	ENSP00000418285.1:p.Val2452Phe
ENST00000491769.1:n.5617G>T
ENST00000493608.1:n.107G>T
NM_004369.3:c.9175G>T , LRG_473t1:c.9175G>T	NP_004360.2:p.Val3059Phe
NM_057166.4:c.7354G>T	NP_476507.3:p.Val2452Phe
NM_057167.3:c.8557G>T	NP_476508.2:p.Val2853Phe
XM_005246065.1:c.8575G>T	XP_005246122.1:p.Val2859Phe
XM_005246066.1:c.7954G>T	XP_005246123.1:p.Val2652Phe
XM_006712253.1:c.8674G>T	XP_006712316.1:p.Val2892Phe
XM_011510574.1:c.9172G>T	XP_011508876.1:p.Val3058Phe
XM_011510575.1:c.6769G>T	XP_011508877.1:p.Val2257Phe
XM_017003304.1:c.6769G>T	XP_016858793.1:p.Val2257Phe
XM_024452684.1:c.7954G>T	XP_024308452.1:p.Val2652Phe
NM_004369.4:c.9175G>T MANE Select	NP_004360.2:p.Val3059Phe
NM_057166.5:c.7354G>T	NP_476507.3:p.Val2452Phe
NM_057167.4:c.8557G>T	NP_476508.2:p.Val2853Phe