Canonical Allele Identifier: CA431675136

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238249189T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237340546T>A , CM000664.2:g.237340546T>A	GRCh38
NC_000002.11:g.238249189T>A , CM000664.1:g.238249189T>A	GRCh37
NC_000002.10:g.237913928T>A	NCBI36
NG_008676.1:g.78662A>T , LRG_473:g.78662A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1015A>T
ENST00000353578.9:c.7752A>T	ENSP00000315873.4:p.Pro2584=
ENST00000682957.1:c.373A>T
ENST00000684508.1:n.637A>T
ENST00000295550.9:c.8370A>T MANE Select	ENSP00000295550.4:p.Pro2790=
ENST00000295550.8:c.8370A>T	ENSP00000295550.4:p.Pro2790=
ENST00000347401.7:c.6546A>T	ENSP00000315609.4:p.Pro2182=
ENST00000353578.8:c.7752A>T	ENSP00000315873.4:p.Pro2584=
ENST00000409809.5:c.7752A>T	ENSP00000386844.1:p.Pro2584=
ENST00000468792.1:n.57A>T
ENST00000472056.5:c.6549A>T	ENSP00000418285.1:p.Pro2183=
ENST00000491769.1:n.4812A>T
NM_004369.3:c.8370A>T , LRG_473t1:c.8370A>T	NP_004360.2:p.Pro2790=
NM_057166.4:c.6549A>T	NP_476507.3:p.Pro2183=
NM_057167.3:c.7752A>T	NP_476508.2:p.Pro2584=
XM_005246065.1:c.7770A>T	XP_005246122.1:p.Pro2590=
XM_005246066.1:c.7149A>T	XP_005246123.1:p.Pro2383=
XM_006712253.1:c.7869A>T	XP_006712316.1:p.Pro2623=
XM_011510574.1:c.8367A>T	XP_011508876.1:p.Pro2789=
XM_011510575.1:c.5964A>T	XP_011508877.1:p.Pro1988=
XM_017003304.1:c.5964A>T	XP_016858793.1:p.Pro1988=
XM_024452684.1:c.7149A>T	XP_024308452.1:p.Pro2383=
NM_004369.4:c.8370A>T MANE Select	NP_004360.2:p.Pro2790=
NM_057166.5:c.6549A>T	NP_476507.3:p.Pro2183=
NM_057167.4:c.7752A>T	NP_476508.2:p.Pro2584=