Canonical Allele Identifier: CA974791

Gene: COL11A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.103005827A>C , CM000663.2:g.103005827A>C	GRCh38
NC_000001.10:g.103471383A>C , CM000663.1:g.103471383A>C	GRCh37
NC_000001.9:g.103243971A>C	NCBI36
NG_008033.1:g.107670T>G
NG_008033.2:g.107670T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001854.4:c.1845+11T>G MANE Select	NP_001845.3:n.1845+11T>G
ENST00000370096.9:c.1845+11T>G MANE Select	ENSP00000359114.3:n.1845+11T>G
NM_001190709.1:c.1728+11T>G	NP_001177638.1:n.1728+11T>G
NM_001190709.2:c.1728+11T>G	NP_001177638.1:n.1728+11T>G
NM_001854.3:c.1845+11T>G	NP_001845.3:n.1845+11T>G
NM_080629.2:c.1881+11T>G	NP_542196.2:n.1881+11T>G
NM_080629.3:c.1881+11T>G	NP_542196.2:n.1881+11T>G
NM_080630.3:c.1497+11T>G	NP_542197.3:n.1497+11T>G
NM_080630.4:c.1497+11T>G	NP_542197.3:n.1497+11T>G
NR_134980.1:n.2163+11T>G
NR_134980.2:n.2189+11T>G
ENST00000353414.8:c.1728+11T>G	ENSP00000302551.6:n.1728+11T>G
ENST00000358392.6:c.1881+11T>G	ENSP00000351163.2:n.1881+11T>G
ENST00000370096.7:c.1845+11T>G	ENSP00000359114.3:n.1845+11T>G
ENST00000461720.5:n.193+11T>G
ENST00000461720.6:c.1998+11T>G	ENSP00000494909.1:n.1998+11T>G
ENST00000512756.5:c.1497+11T>G	ENSP00000426533.1:n.1497+11T>G
ENST00000635193.1:c.1163+11T>G
ENST00000644186.1:c.1845+11T>G	ENSP00000493821.1:n.1845+11T>G
ENST00000645458.1:c.1845+11T>G	ENSP00000494179.1:n.1845+11T>G
ENST00000647280.1:c.1845+11T>G	ENSP00000494583.1:n.1845+11T>G
XM_011540719.1:c.1845+11T>G	XP_011539021.1:n.1845+11T>G
XM_011540720.1:c.78+11T>G	XP_011539022.1:n.78+11T>G
XM_011540721.1:c.-584+11T>G	XP_011539023.1:n.-584+11T>G
XM_017000334.1:c.1998+11T>G	XP_016855823.1:n.1998+11T>G
XM_017000335.1:c.1992+11T>G	XP_016855824.1:n.1992+11T>G
XM_017000336.1:c.1998+11T>G	XP_016855825.1:n.1998+11T>G
XM_017000337.1:c.396+11T>G	XP_016855826.1:n.396+11T>G
XR_946545.1:n.2243+11T>G