Canonical Allele Identifier: CA2187489

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336474G>C , CM000664.2:g.237336474G>C	GRCh38
NC_000002.11:g.238245117G>C , CM000664.1:g.238245117G>C	GRCh37
NC_000002.10:g.237909856G>C	NCBI36
NG_008676.1:g.82734C>G , LRG_473:g.82734C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004369.4:c.8626C>G MANE Select	NP_004360.2:p.Pro2876Ala
ENST00000295550.9:c.8626C>G MANE Select	ENSP00000295550.4:p.Pro2876Ala
NM_004369.3:c.8626C>G , LRG_473t1:c.8626C>G	NP_004360.2:p.Pro2876Ala
NM_057166.4:c.6805C>G	NP_476507.3:p.Pro2269Ala
NM_057166.5:c.6805C>G	NP_476507.3:p.Pro2269Ala
NM_057167.3:c.8008C>G	NP_476508.2:p.Pro2670Ala
NM_057167.4:c.8008C>G	NP_476508.2:p.Pro2670Ala
ENST00000295550.8:c.8626C>G	ENSP00000295550.4:p.Pro2876Ala
ENST00000347401.7:c.6802C>G	ENSP00000315609.4:p.Pro2268Ala
ENST00000347401.8:c.1271C>G
ENST00000353578.8:c.8008C>G	ENSP00000315873.4:p.Pro2670Ala
ENST00000353578.9:c.8008C>G	ENSP00000315873.4:p.Pro2670Ala
ENST00000409809.5:c.8008C>G	ENSP00000386844.1:p.Pro2670Ala
ENST00000472056.5:c.6805C>G	ENSP00000418285.1:p.Pro2269Ala
ENST00000491769.1:n.5068C>G
ENST00000682957.1:c.753C>G
ENST00000684508.1:n.893C>G
XM_005246065.1:c.8026C>G	XP_005246122.1:p.Pro2676Ala
XM_005246066.1:c.7405C>G	XP_005246123.1:p.Pro2469Ala
XM_006712253.1:c.8125C>G	XP_006712316.1:p.Pro2709Ala
XM_011510574.1:c.8623C>G	XP_011508876.1:p.Pro2875Ala
XM_011510575.1:c.6220C>G	XP_011508877.1:p.Pro2074Ala
XM_017003304.1:c.6220C>G	XP_016858793.1:p.Pro2074Ala
XM_024452684.1:c.7405C>G	XP_024308452.1:p.Pro2469Ala