Canonical Allele Identifier: CA974538

Gene: COL11A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102997090T>C , CM000663.2:g.102997090T>C	GRCh38
NC_000001.10:g.103462646T>C , CM000663.1:g.103462646T>C	GRCh37
NC_000001.9:g.103235234T>C	NCBI36
NG_008033.1:g.116407A>G
NG_008033.2:g.116407A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001854.4:c.2231A>G MANE Select	NP_001845.3:p.Lys744Arg
ENST00000370096.9:c.2231A>G MANE Select	ENSP00000359114.3:p.Lys744Arg
NM_001190709.1:c.2114A>G	NP_001177638.1:p.Lys705Arg
NM_001190709.2:c.2114A>G	NP_001177638.1:p.Lys705Arg
NM_001854.3:c.2231A>G	NP_001845.3:p.Lys744Arg
NM_080629.2:c.2267A>G	NP_542196.2:p.Lys756Arg
NM_080629.3:c.2267A>G	NP_542196.2:p.Lys756Arg
NM_080630.3:c.1883A>G	NP_542197.3:p.Lys628Arg
NM_080630.4:c.1883A>G	NP_542197.3:p.Lys628Arg
NR_134980.1:n.2549A>G
NR_134980.2:n.2575A>G
ENST00000353414.8:c.2114A>G	ENSP00000302551.6:p.Lys705Arg
ENST00000358392.6:c.2267A>G	ENSP00000351163.2:p.Lys756Arg
ENST00000370096.7:c.2231A>G	ENSP00000359114.3:p.Lys744Arg
ENST00000512756.5:c.1883A>G	ENSP00000426533.1:p.Lys628Arg
ENST00000635193.1:c.1549A>G
XM_011540719.1:c.2231A>G	XP_011539021.1:p.Lys744Arg
XM_011540720.1:c.464A>G	XP_011539022.1:p.Lys155Arg
XM_011540721.1:c.-198A>G	XP_011539023.1:n.-198A>G
XM_017000334.1:c.2384A>G	XP_016855823.1:p.Lys795Arg
XM_017000335.1:c.2378A>G	XP_016855824.1:p.Lys793Arg
XM_017000336.1:c.2384A>G	XP_016855825.1:p.Lys795Arg
XM_017000337.1:c.782A>G	XP_016855826.1:p.Lys261Arg
XR_946545.1:n.2629A>G