Canonical Allele Identifier: CA2187596

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237340685G>A , CM000664.2:g.237340685G>A	GRCh38
NC_000002.11:g.238249328G>A , CM000664.1:g.238249328G>A	GRCh37
NC_000002.10:g.237914067G>A	NCBI36
NG_008676.1:g.78523C>T , LRG_473:g.78523C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004369.4:c.8231C>T MANE Select	NP_004360.2:p.Thr2744Met
ENST00000295550.9:c.8231C>T MANE Select	ENSP00000295550.4:p.Thr2744Met
NM_004369.3:c.8231C>T , LRG_473t1:c.8231C>T	NP_004360.2:p.Thr2744Met
NM_057166.4:c.6410C>T	NP_476507.3:p.Thr2137Met
NM_057166.5:c.6410C>T	NP_476507.3:p.Thr2137Met
NM_057167.3:c.7613C>T	NP_476508.2:p.Thr2538Met
NM_057167.4:c.7613C>T	NP_476508.2:p.Thr2538Met
ENST00000295550.8:c.8231C>T	ENSP00000295550.4:p.Thr2744Met
ENST00000347401.7:c.6407C>T	ENSP00000315609.4:p.Thr2136Met
ENST00000347401.8:c.876C>T
ENST00000353578.8:c.7613C>T	ENSP00000315873.4:p.Thr2538Met
ENST00000353578.9:c.7613C>T	ENSP00000315873.4:p.Thr2538Met
ENST00000409809.5:c.7613C>T	ENSP00000386844.1:p.Thr2538Met
ENST00000472056.5:c.6410C>T	ENSP00000418285.1:p.Thr2137Met
ENST00000491769.1:n.4673C>T
ENST00000682957.1:c.234C>T
ENST00000684508.1:n.498C>T
XM_005246065.1:c.7631C>T	XP_005246122.1:p.Thr2544Met
XM_005246066.1:c.7010C>T	XP_005246123.1:p.Thr2337Met
XM_006712253.1:c.7730C>T	XP_006712316.1:p.Thr2577Met
XM_011510574.1:c.8228C>T	XP_011508876.1:p.Thr2743Met
XM_011510575.1:c.5825C>T	XP_011508877.1:p.Thr1942Met
XM_017003304.1:c.5825C>T	XP_016858793.1:p.Thr1942Met
XM_024452684.1:c.7010C>T	XP_024308452.1:p.Thr2337Met