Canonical Allele Identifier: CA341160711

Gene: COL11A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102914351C>T , CM000663.2:g.102914351C>T	GRCh38
NC_000001.10:g.103379907C>T , CM000663.1:g.103379907C>T	GRCh37
NC_000001.9:g.103152495C>T	NCBI36
NG_008033.1:g.199146G>A
NG_008033.2:g.199146G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001854.4:c.3978+1G>A MANE Select	NP_001845.3:n.3978+1G>A
ENST00000370096.9:c.3978+1G>A MANE Select	ENSP00000359114.3:n.3978+1G>A
NM_001190709.1:c.3861+1G>A	NP_001177638.1:n.3861+1G>A
NM_001190709.2:c.3861+1G>A	NP_001177638.1:n.3861+1G>A
NM_001854.3:c.3978+1G>A	NP_001845.3:n.3978+1G>A
NM_080629.2:c.4014+1G>A	NP_542196.2:n.4014+1G>A
NM_080629.3:c.4014+1G>A	NP_542196.2:n.4014+1G>A
NM_080630.3:c.3630+1G>A	NP_542197.3:n.3630+1G>A
NM_080630.4:c.3630+1G>A	NP_542197.3:n.3630+1G>A
NR_134980.1:n.4312+1G>A
NR_134980.2:n.4338+1G>A
ENST00000353414.8:c.3861+1G>A	ENSP00000302551.6:n.3861+1G>A
ENST00000358392.6:c.4014+1G>A	ENSP00000351163.2:n.4014+1G>A
ENST00000370096.7:c.3978+1G>A	ENSP00000359114.3:n.3978+1G>A
ENST00000512756.5:c.3630+1G>A	ENSP00000426533.1:n.3630+1G>A
ENST00000635193.1:c.3312+1G>A
XM_011540719.1:c.3978+1G>A	XP_011539021.1:n.3978+1G>A
XM_011540720.1:c.2211+1G>A	XP_011539022.1:n.2211+1G>A
XM_011540721.1:c.1566+1G>A	XP_011539023.1:n.1566+1G>A
XM_017000334.1:c.4131+1G>A	XP_016855823.1:n.4131+1G>A
XM_017000335.1:c.4125+1G>A	XP_016855824.1:n.4125+1G>A
XM_017000336.1:c.4131+1G>A	XP_016855825.1:n.4131+1G>A
XM_017000337.1:c.2529+1G>A	XP_016855826.1:n.2529+1G>A