Canonical Allele Identifier: CA341171456

Gene: COL11A1

Linked Data

• COSMIC: COSM6120278 ; COSM6120279
• MyVariant Identifiers: chr1:g.103412505G>T (hg19) ; chr1:g.102946949G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102946949G>T , CM000663.2:g.102946949G>T	GRCh38
NC_000001.10:g.103412505G>T , CM000663.1:g.103412505G>T	GRCh37
NC_000001.9:g.103185093G>T	NCBI36
NG_008033.1:g.166548C>A
NG_008033.2:g.166548C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.3176C>A MANE Select	ENSP00000359114.3:p.Pro1059Gln
ENST00000353414.8:c.3059C>A	ENSP00000302551.6:p.Pro1020Gln
ENST00000358392.6:c.3212C>A	ENSP00000351163.2:p.Pro1071Gln
ENST00000370096.7:c.3176C>A	ENSP00000359114.3:p.Pro1059Gln
ENST00000512756.5:c.2828C>A	ENSP00000426533.1:p.Pro943Gln
ENST00000635193.1:c.2510C>A
NM_001190709.1:c.3059C>A	NP_001177638.1:p.Pro1020Gln
NM_001854.3:c.3176C>A	NP_001845.3:p.Pro1059Gln
NM_080629.2:c.3212C>A	NP_542196.2:p.Pro1071Gln
NM_080630.3:c.2828C>A	NP_542197.3:p.Pro943Gln
XM_011540719.1:c.3176C>A	XP_011539021.1:p.Pro1059Gln
XM_011540720.1:c.1409C>A	XP_011539022.1:p.Pro470Gln
XM_011540721.1:c.764C>A	XP_011539023.1:p.Pro255Gln
NR_134980.1:n.3510C>A
XM_017000334.1:c.3329C>A	XP_016855823.1:p.Pro1110Gln
XM_017000335.1:c.3323C>A	XP_016855824.1:p.Pro1108Gln
XM_017000336.1:c.3329C>A	XP_016855825.1:p.Pro1110Gln
XM_017000337.1:c.1727C>A	XP_016855826.1:p.Pro576Gln
NM_001854.4:c.3176C>A MANE Select	NP_001845.3:p.Pro1059Gln
NM_080630.4:c.2828C>A	NP_542197.3:p.Pro943Gln
NR_134980.2:n.3536C>A
NM_001190709.2:c.3059C>A	NP_001177638.1:p.Pro1020Gln
NM_080629.3:c.3212C>A	NP_542196.2:p.Pro1071Gln