Canonical Allele Identifier: CA2187361

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237334759C>A , CM000664.2:g.237334759C>A	GRCh38
NC_000002.11:g.238243402C>A , CM000664.1:g.238243402C>A	GRCh37
NC_000002.10:g.237908141C>A	NCBI36
NG_008676.1:g.84449G>T , LRG_473:g.84449G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1611-1211G>T
ENST00000353578.9:c.8478G>T	ENSP00000315873.4:p.Leu2826=
ENST00000682957.1:c.1223G>T
ENST00000295550.9:c.9096G>T MANE Select	ENSP00000295550.4:p.Leu3032=
ENST00000295550.8:c.9096G>T	ENSP00000295550.4:p.Leu3032=
ENST00000347401.7:c.7272G>T	ENSP00000315609.4:p.Leu2424=
ENST00000353578.8:c.8478G>T	ENSP00000315873.4:p.Leu2826=
ENST00000409809.5:c.8478G>T	ENSP00000386844.1:p.Leu2826=
ENST00000472056.5:c.7275G>T	ENSP00000418285.1:p.Leu2425=
ENST00000491769.1:n.5538G>T
ENST00000493608.1:n.28G>T
NM_004369.3:c.9096G>T , LRG_473t1:c.9096G>T	NP_004360.2:p.Leu3032=
NM_057166.4:c.7275G>T	NP_476507.3:p.Leu2425=
NM_057167.3:c.8478G>T	NP_476508.2:p.Leu2826=
XM_005246065.1:c.8496G>T	XP_005246122.1:p.Leu2832=
XM_005246066.1:c.7875G>T	XP_005246123.1:p.Leu2625=
XM_006712253.1:c.8595G>T	XP_006712316.1:p.Leu2865=
XM_011510574.1:c.9093G>T	XP_011508876.1:p.Leu3031=
XM_011510575.1:c.6690G>T	XP_011508877.1:p.Leu2230=
XM_017003304.1:c.6690G>T	XP_016858793.1:p.Leu2230=
XM_024452684.1:c.7875G>T	XP_024308452.1:p.Leu2625=
NM_004369.4:c.9096G>T MANE Select	NP_004360.2:p.Leu3032=
NM_057166.5:c.7275G>T	NP_476507.3:p.Leu2425=
NM_057167.4:c.8478G>T	NP_476508.2:p.Leu2826=