Canonical Allele Identifier: CA341171150

Gene: COL11A1

Linked Data

• MyVariant Identifiers: chr1:g.103412460G>C (hg19) ; chr1:g.102946904G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102946904G>C , CM000663.2:g.102946904G>C	GRCh38
NC_000001.10:g.103412460G>C , CM000663.1:g.103412460G>C	GRCh37
NC_000001.9:g.103185048G>C	NCBI36
NG_008033.1:g.166593C>G
NG_008033.2:g.166593C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.3221C>G MANE Select	ENSP00000359114.3:p.Pro1074Arg
ENST00000353414.8:c.3104C>G	ENSP00000302551.6:p.Pro1035Arg
ENST00000358392.6:c.3257C>G	ENSP00000351163.2:p.Pro1086Arg
ENST00000370096.7:c.3221C>G	ENSP00000359114.3:p.Pro1074Arg
ENST00000512756.5:c.2873C>G	ENSP00000426533.1:p.Pro958Arg
ENST00000635193.1:c.2555C>G
NM_001190709.1:c.3104C>G	NP_001177638.1:p.Pro1035Arg
NM_001854.3:c.3221C>G	NP_001845.3:p.Pro1074Arg
NM_080629.2:c.3257C>G	NP_542196.2:p.Pro1086Arg
NM_080630.3:c.2873C>G	NP_542197.3:p.Pro958Arg
XM_011540719.1:c.3221C>G	XP_011539021.1:p.Pro1074Arg
XM_011540720.1:c.1454C>G	XP_011539022.1:p.Pro485Arg
XM_011540721.1:c.809C>G	XP_011539023.1:p.Pro270Arg
NR_134980.1:n.3555C>G
XM_017000334.1:c.3374C>G	XP_016855823.1:p.Pro1125Arg
XM_017000335.1:c.3368C>G	XP_016855824.1:p.Pro1123Arg
XM_017000336.1:c.3374C>G	XP_016855825.1:p.Pro1125Arg
XM_017000337.1:c.1772C>G	XP_016855826.1:p.Pro591Arg
NM_001854.4:c.3221C>G MANE Select	NP_001845.3:p.Pro1074Arg
NM_080630.4:c.2873C>G	NP_542197.3:p.Pro958Arg
NR_134980.2:n.3581C>G
NM_001190709.2:c.3104C>G	NP_001177638.1:p.Pro1035Arg
NM_080629.3:c.3257C>G	NP_542196.2:p.Pro1086Arg