Canonical Allele Identifier: CA1337608412

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237340471C= , CM000664.2:g.237340471C=	GRCh38
NC_000002.11:g.238249114C= , CM000664.1:g.238249114C=	GRCh37
NC_000002.10:g.237913853C=	NCBI36
NG_008676.1:g.78737G= , LRG_473:g.78737G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1090G=
ENST00000353578.9:c.7827G=	ENSP00000315873.4:p.Leu2609=
ENST00000682957.1:c.448G=
ENST00000684508.1:n.712G=
ENST00000295550.9:c.8445G= MANE Select	ENSP00000295550.4:p.Leu2815=
ENST00000295550.8:c.8445G=	ENSP00000295550.4:p.Leu2815=
ENST00000347401.7:c.6621G=	ENSP00000315609.4:p.Leu2207=
ENST00000353578.8:c.7827G=	ENSP00000315873.4:p.Leu2609=
ENST00000409809.5:c.7827G=	ENSP00000386844.1:p.Leu2609=
ENST00000468792.1:n.132G=
ENST00000472056.5:c.6624G=	ENSP00000418285.1:p.Leu2208=
ENST00000491769.1:n.4887G=
NM_004369.3:c.8445G= , LRG_473t1:c.8445G=	NP_004360.2:p.Leu2815=
NM_057166.4:c.6624G=	NP_476507.3:p.Leu2208=
NM_057167.3:c.7827G=	NP_476508.2:p.Leu2609=
XM_005246065.1:c.7845G=	XP_005246122.1:p.Leu2615=
XM_005246066.1:c.7224G=	XP_005246123.1:p.Leu2408=
XM_006712253.1:c.7944G=	XP_006712316.1:p.Leu2648=
XM_011510574.1:c.8442G=	XP_011508876.1:p.Leu2814=
XM_011510575.1:c.6039G=	XP_011508877.1:p.Leu2013=
XM_017003304.1:c.6039G=	XP_016858793.1:p.Leu2013=
XM_024452684.1:c.7224G=	XP_024308452.1:p.Leu2408=
NM_004369.4:c.8445G= MANE Select	NP_004360.2:p.Leu2815=
NM_057166.5:c.6624G=	NP_476507.3:p.Leu2208=
NM_057167.4:c.7827G=	NP_476508.2:p.Leu2609=