Canonical Allele Identifier: CA2188813

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237368674G>A , CM000664.2:g.237368674G>A	GRCh38
NC_000002.11:g.238277317G>A , CM000664.1:g.238277317G>A	GRCh37
NC_000002.10:g.237942056G>A	NCBI36
NG_008676.1:g.50534C>T , LRG_473:g.50534C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004369.4:c.4789C>T MANE Select	NP_004360.2:p.Arg1597Ter
ENST00000295550.9:c.4789C>T MANE Select	ENSP00000295550.4:p.Arg1597Ter
NM_004369.3:c.4789C>T , LRG_473t1:c.4789C>T	NP_004360.2:p.Arg1597Ter
NM_057166.4:c.2968C>T	NP_476507.3:p.Arg990Ter
NM_057166.5:c.2968C>T	NP_476507.3:p.Arg990Ter
NM_057167.3:c.4171C>T	NP_476508.2:p.Arg1391Ter
NM_057167.4:c.4171C>T	NP_476508.2:p.Arg1391Ter
ENST00000295550.8:c.4789C>T	ENSP00000295550.4:p.Arg1597Ter
ENST00000347401.7:c.2968C>T	ENSP00000315609.4:p.Arg990Ter
ENST00000353578.8:c.4171C>T	ENSP00000315873.4:p.Arg1391Ter
ENST00000353578.9:c.4171C>T	ENSP00000315873.4:p.Arg1391Ter
ENST00000409809.5:c.4171C>T	ENSP00000386844.1:p.Arg1391Ter
ENST00000472056.5:c.2968C>T	ENSP00000418285.1:p.Arg990Ter
ENST00000684597.1:c.119C>T
XM_005246065.1:c.4189C>T	XP_005246122.1:p.Arg1397Ter
XM_005246066.1:c.3568C>T	XP_005246123.1:p.Arg1190Ter
XM_006712253.1:c.4288C>T	XP_006712316.1:p.Arg1430Ter
XM_011510574.1:c.4786C>T	XP_011508876.1:p.Arg1596Ter
XM_011510575.1:c.2383C>T	XP_011508877.1:p.Arg795Ter
XM_017003304.1:c.2383C>T	XP_016858793.1:p.Arg795Ter
XM_024452684.1:c.3568C>T	XP_024308452.1:p.Arg1190Ter