Canonical Allele Identifier: CA351191048

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238244828G>A (hg19) ; chr2:g.237336185G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336185G>A , CM000664.2:g.237336185G>A	GRCh38
NC_000002.11:g.238244828G>A , CM000664.1:g.238244828G>A	GRCh37
NC_000002.10:g.237909567G>A	NCBI36
NG_008676.1:g.83023C>T , LRG_473:g.83023C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1560C>T
ENST00000353578.9:c.8297C>T	ENSP00000315873.4:p.Pro2766Leu
ENST00000682957.1:c.1042C>T
ENST00000684508.1:n.1182C>T
ENST00000295550.9:c.8915C>T MANE Select	ENSP00000295550.4:p.Pro2972Leu
ENST00000295550.8:c.8915C>T	ENSP00000295550.4:p.Pro2972Leu
ENST00000347401.7:c.7091C>T	ENSP00000315609.4:p.Pro2364Leu
ENST00000353578.8:c.8297C>T	ENSP00000315873.4:p.Pro2766Leu
ENST00000409809.5:c.8297C>T	ENSP00000386844.1:p.Pro2766Leu
ENST00000472056.5:c.7094C>T	ENSP00000418285.1:p.Pro2365Leu
ENST00000491769.1:n.5357C>T
NM_004369.3:c.8915C>T , LRG_473t1:c.8915C>T	NP_004360.2:p.Pro2972Leu
NM_057166.4:c.7094C>T	NP_476507.3:p.Pro2365Leu
NM_057167.3:c.8297C>T	NP_476508.2:p.Pro2766Leu
XM_005246065.1:c.8315C>T	XP_005246122.1:p.Pro2772Leu
XM_005246066.1:c.7694C>T	XP_005246123.1:p.Pro2565Leu
XM_006712253.1:c.8414C>T	XP_006712316.1:p.Pro2805Leu
XM_011510574.1:c.8912C>T	XP_011508876.1:p.Pro2971Leu
XM_011510575.1:c.6509C>T	XP_011508877.1:p.Pro2170Leu
XM_017003304.1:c.6509C>T	XP_016858793.1:p.Pro2170Leu
XM_024452684.1:c.7694C>T	XP_024308452.1:p.Pro2565Leu
NM_004369.4:c.8915C>T MANE Select	NP_004360.2:p.Pro2972Leu
NM_057166.5:c.7094C>T	NP_476507.3:p.Pro2365Leu
NM_057167.4:c.8297C>T	NP_476508.2:p.Pro2766Leu