Canonical Allele Identifier: CA974541

Gene: COL11A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102997118G>C , CM000663.2:g.102997118G>C	GRCh38
NC_000001.10:g.103462674G>C , CM000663.1:g.103462674G>C	GRCh37
NC_000001.9:g.103235262G>C	NCBI36
NG_008033.1:g.116379C>G
NG_008033.2:g.116379C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001854.4:c.2203C>G MANE Select	NP_001845.3:p.Pro735Ala
ENST00000370096.9:c.2203C>G MANE Select	ENSP00000359114.3:p.Pro735Ala
NM_001190709.1:c.2086C>G	NP_001177638.1:p.Pro696Ala
NM_001190709.2:c.2086C>G	NP_001177638.1:p.Pro696Ala
NM_001854.3:c.2203C>G	NP_001845.3:p.Pro735Ala
NM_080629.2:c.2239C>G	NP_542196.2:p.Pro747Ala
NM_080629.3:c.2239C>G	NP_542196.2:p.Pro747Ala
NM_080630.3:c.1855C>G	NP_542197.3:p.Pro619Ala
NM_080630.4:c.1855C>G	NP_542197.3:p.Pro619Ala
NR_134980.1:n.2521C>G
NR_134980.2:n.2547C>G
ENST00000353414.8:c.2086C>G	ENSP00000302551.6:p.Pro696Ala
ENST00000358392.6:c.2239C>G	ENSP00000351163.2:p.Pro747Ala
ENST00000370096.7:c.2203C>G	ENSP00000359114.3:p.Pro735Ala
ENST00000512756.5:c.1855C>G	ENSP00000426533.1:p.Pro619Ala
ENST00000635193.1:c.1521C>G
XM_011540719.1:c.2203C>G	XP_011539021.1:p.Pro735Ala
XM_011540720.1:c.436C>G	XP_011539022.1:p.Pro146Ala
XM_011540721.1:c.-226C>G	XP_011539023.1:n.-226C>G
XM_017000334.1:c.2356C>G	XP_016855823.1:p.Pro786Ala
XM_017000335.1:c.2350C>G	XP_016855824.1:p.Pro784Ala
XM_017000336.1:c.2356C>G	XP_016855825.1:p.Pro786Ala
XM_017000337.1:c.754C>G	XP_016855826.1:p.Pro252Ala
XR_946545.1:n.2601C>G