Canonical Allele Identifier: CA351187912

Gene: COL6A3

Linked Data

• ClinVar Variation Id: 1714752
• ClinVar RCV Id: RCV002299120
• MyVariant Identifiers: chr2:g.238275599G>A (hg19) ; chr2:g.237366956G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237366956G>A , CM000664.2:g.237366956G>A	GRCh38
NC_000002.11:g.238275599G>A , CM000664.1:g.238275599G>A	GRCh37
NC_000002.10:g.237940338G>A	NCBI36
NG_008676.1:g.52252C>T , LRG_473:g.52252C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353578.9:c.4613C>T	ENSP00000315873.4:p.Pro1538Leu
ENST00000295550.9:c.5231C>T MANE Select	ENSP00000295550.4:p.Pro1744Leu
ENST00000295550.8:c.5231C>T	ENSP00000295550.4:p.Pro1744Leu
ENST00000347401.7:c.3410C>T	ENSP00000315609.4:p.Pro1137Leu
ENST00000353578.8:c.4613C>T	ENSP00000315873.4:p.Pro1538Leu
ENST00000409809.5:c.4613C>T	ENSP00000386844.1:p.Pro1538Leu
ENST00000472056.5:c.3410C>T	ENSP00000418285.1:p.Pro1137Leu
NM_004369.3:c.5231C>T , LRG_473t1:c.5231C>T	NP_004360.2:p.Pro1744Leu
NM_057166.4:c.3410C>T	NP_476507.3:p.Pro1137Leu
NM_057167.3:c.4613C>T	NP_476508.2:p.Pro1538Leu
XM_005246065.1:c.4631C>T	XP_005246122.1:p.Pro1544Leu
XM_005246066.1:c.4010C>T	XP_005246123.1:p.Pro1337Leu
XM_006712253.1:c.4730C>T	XP_006712316.1:p.Pro1577Leu
XM_011510574.1:c.5228C>T	XP_011508876.1:p.Pro1743Leu
XM_011510575.1:c.2825C>T	XP_011508877.1:p.Pro942Leu
XM_017003304.1:c.2825C>T	XP_016858793.1:p.Pro942Leu
XM_024452684.1:c.4010C>T	XP_024308452.1:p.Pro1337Leu
NM_004369.4:c.5231C>T MANE Select	NP_004360.2:p.Pro1744Leu
NM_057166.5:c.3410C>T	NP_476507.3:p.Pro1137Leu
NM_057167.4:c.4613C>T	NP_476508.2:p.Pro1538Leu