Canonical Allele Identifier: CA2187317

Gene: COL6A3

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237333533G>A , CM000664.2:g.237333533G>A	GRCh38
NC_000002.11:g.238242176G>A , CM000664.1:g.238242176G>A	GRCh37
NC_000002.10:g.237906915G>A	NCBI36
NG_008676.1:g.85675C>T , LRG_473:g.85675C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1626C>T
ENST00000353578.9:c.8627C>T	ENSP00000315873.4:p.Pro2876Leu
ENST00000682957.1:c.1372C>T
ENST00000683348.1:c.111C>T	ENSP00000508058.1:p.Pro37=
ENST00000295550.9:c.9245C>T MANE Select	ENSP00000295550.4:p.Pro3082Leu
ENST00000295550.8:c.9245C>T	ENSP00000295550.4:p.Pro3082Leu
ENST00000347401.7:c.7421C>T	ENSP00000315609.4:p.Pro2474Leu
ENST00000353578.8:c.8627C>T	ENSP00000315873.4:p.Pro2876Leu
ENST00000409809.5:c.8627C>T	ENSP00000386844.1:p.Pro2876Leu
ENST00000472056.5:c.7424C>T	ENSP00000418285.1:p.Pro2475Leu
ENST00000491769.1:n.5687C>T
ENST00000493608.1:n.177C>T
NM_004369.3:c.9245C>T , LRG_473t1:c.9245C>T	NP_004360.2:p.Pro3082Leu
NM_057166.4:c.7424C>T	NP_476507.3:p.Pro2475Leu
NM_057167.3:c.8627C>T	NP_476508.2:p.Pro2876Leu
XM_005246065.1:c.8645C>T	XP_005246122.1:p.Pro2882Leu
XM_005246066.1:c.8024C>T	XP_005246123.1:p.Pro2675Leu
XM_006712253.1:c.8744C>T	XP_006712316.1:p.Pro2915Leu
XM_011510574.1:c.9242C>T	XP_011508876.1:p.Pro3081Leu
XM_011510575.1:c.6839C>T	XP_011508877.1:p.Pro2280Leu
XM_017003304.1:c.6839C>T	XP_016858793.1:p.Pro2280Leu
XM_024452684.1:c.8024C>T	XP_024308452.1:p.Pro2675Leu
NM_004369.4:c.9245C>T MANE Select	NP_004360.2:p.Pro3082Leu
NM_057166.5:c.7424C>T	NP_476507.3:p.Pro2475Leu
NM_057167.4:c.8627C>T	NP_476508.2:p.Pro2876Leu