Canonical Allele Identifier: CA2188508

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237363341A>G , CM000664.2:g.237363341A>G	GRCh38
NC_000002.11:g.238271984A>G , CM000664.1:g.238271984A>G	GRCh37
NC_000002.10:g.237936723A>G	NCBI36
NG_008676.1:g.55867T>C , LRG_473:g.55867T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004369.4:c.5975T>C MANE Select	NP_004360.2:p.Met1992Thr
ENST00000295550.9:c.5975T>C MANE Select	ENSP00000295550.4:p.Met1992Thr
NM_004369.3:c.5975T>C , LRG_473t1:c.5975T>C	NP_004360.2:p.Met1992Thr
NM_057166.4:c.4154T>C	NP_476507.3:p.Met1385Thr
NM_057166.5:c.4154T>C	NP_476507.3:p.Met1385Thr
NM_057167.3:c.5357T>C	NP_476508.2:p.Met1786Thr
NM_057167.4:c.5357T>C	NP_476508.2:p.Met1786Thr
ENST00000295550.8:c.5975T>C	ENSP00000295550.4:p.Met1992Thr
ENST00000347401.7:c.4154T>C	ENSP00000315609.4:p.Met1385Thr
ENST00000353578.8:c.5357T>C	ENSP00000315873.4:p.Met1786Thr
ENST00000353578.9:c.5357T>C	ENSP00000315873.4:p.Met1786Thr
ENST00000409809.5:c.5357T>C	ENSP00000386844.1:p.Met1786Thr
ENST00000472056.5:c.4154T>C	ENSP00000418285.1:p.Met1385Thr
XM_005246065.1:c.5375T>C	XP_005246122.1:p.Met1792Thr
XM_005246066.1:c.4754T>C	XP_005246123.1:p.Met1585Thr
XM_006712253.1:c.5474T>C	XP_006712316.1:p.Met1825Thr
XM_011510574.1:c.5972T>C	XP_011508876.1:p.Met1991Thr
XM_011510575.1:c.3569T>C	XP_011508877.1:p.Met1190Thr
XM_017003304.1:c.3569T>C	XP_016858793.1:p.Met1190Thr
XM_024452684.1:c.4754T>C	XP_024308452.1:p.Met1585Thr