Canonical Allele Identifier: CA341163614

Gene: COL11A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102920309A>G , CM000663.2:g.102920309A>G	GRCh38
NC_000001.10:g.103385865A>G , CM000663.1:g.103385865A>G	GRCh37
NC_000001.9:g.103158453A>G	NCBI36
NG_008033.1:g.193188T>C
NG_008033.2:g.193188T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001854.4:c.3762+2T>C MANE Select	NP_001845.3:n.3762+2T>C
ENST00000370096.9:c.3762+2T>C MANE Select	ENSP00000359114.3:n.3762+2T>C
NM_001190709.1:c.3645+2T>C	NP_001177638.1:n.3645+2T>C
NM_001190709.2:c.3645+2T>C	NP_001177638.1:n.3645+2T>C
NM_001854.3:c.3762+2T>C	NP_001845.3:n.3762+2T>C
NM_080629.2:c.3798+2T>C	NP_542196.2:n.3798+2T>C
NM_080629.3:c.3798+2T>C	NP_542196.2:n.3798+2T>C
NM_080630.3:c.3414+2T>C	NP_542197.3:n.3414+2T>C
NM_080630.4:c.3414+2T>C	NP_542197.3:n.3414+2T>C
NR_134980.1:n.4096+2T>C
NR_134980.2:n.4122+2T>C
ENST00000353414.8:c.3645+2T>C	ENSP00000302551.6:n.3645+2T>C
ENST00000358392.6:c.3798+2T>C	ENSP00000351163.2:n.3798+2T>C
ENST00000370096.7:c.3762+2T>C	ENSP00000359114.3:n.3762+2T>C
ENST00000512756.5:c.3414+2T>C	ENSP00000426533.1:n.3414+2T>C
ENST00000635193.1:c.3096+2T>C
XM_011540719.1:c.3762+2T>C	XP_011539021.1:n.3762+2T>C
XM_011540720.1:c.1995+2T>C	XP_011539022.1:n.1995+2T>C
XM_011540721.1:c.1350+2T>C	XP_011539023.1:n.1350+2T>C
XM_017000334.1:c.3915+2T>C	XP_016855823.1:n.3915+2T>C
XM_017000335.1:c.3909+2T>C	XP_016855824.1:n.3909+2T>C
XM_017000336.1:c.3915+2T>C	XP_016855825.1:n.3915+2T>C
XM_017000337.1:c.2313+2T>C	XP_016855826.1:n.2313+2T>C