Canonical Allele Identifier: CA974564

Gene: COL11A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102998312G>A , CM000663.2:g.102998312G>A	GRCh38
NC_000001.10:g.103463868G>A , CM000663.1:g.103463868G>A	GRCh37
NC_000001.9:g.103236456G>A	NCBI36
NG_008033.1:g.115185C>T
NG_008033.2:g.115185C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.2194C>T MANE Select	ENSP00000359114.3:p.Pro732Ser
ENST00000353414.8:c.2077C>T	ENSP00000302551.6:p.Pro693Ser
ENST00000358392.6:c.2230C>T	ENSP00000351163.2:p.Pro744Ser
ENST00000370096.7:c.2194C>T	ENSP00000359114.3:p.Pro732Ser
ENST00000512756.5:c.1846C>T	ENSP00000426533.1:p.Pro616Ser
ENST00000635193.1:c.1512C>T
NM_001190709.1:c.2077C>T	NP_001177638.1:p.Pro693Ser
NM_001854.3:c.2194C>T	NP_001845.3:p.Pro732Ser
NM_080629.2:c.2230C>T	NP_542196.2:p.Pro744Ser
NM_080630.3:c.1846C>T	NP_542197.3:p.Pro616Ser
XM_011540719.1:c.2194C>T	XP_011539021.1:p.Pro732Ser
XM_011540720.1:c.427C>T	XP_011539022.1:p.Pro143Ser
XM_011540721.1:c.-235C>T	XP_011539023.1:n.-235C>T
XR_946545.1:n.2592C>T
NR_134980.1:n.2512C>T
XM_017000334.1:c.2347C>T	XP_016855823.1:p.Pro783Ser
XM_017000335.1:c.2341C>T	XP_016855824.1:p.Pro781Ser
XM_017000336.1:c.2347C>T	XP_016855825.1:p.Pro783Ser
XM_017000337.1:c.745C>T	XP_016855826.1:p.Pro249Ser
NM_001854.4:c.2194C>T MANE Select	NP_001845.3:p.Pro732Ser
NM_080630.4:c.1846C>T	NP_542197.3:p.Pro616Ser
NR_134980.2:n.2538C>T
NM_001190709.2:c.2077C>T	NP_001177638.1:p.Pro693Ser
NM_080629.3:c.2230C>T	NP_542196.2:p.Pro744Ser