Canonical Allele Identifier: CA974297

Gene: COL11A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102978727G>A , CM000663.2:g.102978727G>A	GRCh38
NC_000001.10:g.103444283G>A , CM000663.1:g.103444283G>A	GRCh37
NC_000001.9:g.103216871G>A	NCBI36
NG_008033.1:g.134770C>T
NG_008033.2:g.134770C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001854.4:c.2735C>T MANE Select	NP_001845.3:p.Pro912Leu
ENST00000370096.9:c.2735C>T MANE Select	ENSP00000359114.3:p.Pro912Leu
NM_001190709.1:c.2618C>T	NP_001177638.1:p.Pro873Leu
NM_001190709.2:c.2618C>T	NP_001177638.1:p.Pro873Leu
NM_001854.3:c.2735C>T	NP_001845.3:p.Pro912Leu
NM_080629.2:c.2771C>T	NP_542196.2:p.Pro924Leu
NM_080629.3:c.2771C>T	NP_542196.2:p.Pro924Leu
NM_080630.3:c.2387C>T	NP_542197.3:p.Pro796Leu
NM_080630.4:c.2387C>T	NP_542197.3:p.Pro796Leu
NR_134980.1:n.3069C>T
NR_134980.2:n.3095C>T
ENST00000353414.8:c.2618C>T	ENSP00000302551.6:p.Pro873Leu
ENST00000358392.6:c.2771C>T	ENSP00000351163.2:p.Pro924Leu
ENST00000370096.7:c.2735C>T	ENSP00000359114.3:p.Pro912Leu
ENST00000512756.5:c.2387C>T	ENSP00000426533.1:p.Pro796Leu
ENST00000635193.1:c.2069C>T
XM_011540719.1:c.2735C>T	XP_011539021.1:p.Pro912Leu
XM_011540720.1:c.968C>T	XP_011539022.1:p.Pro323Leu
XM_011540721.1:c.323C>T	XP_011539023.1:p.Pro108Leu
XM_017000334.1:c.2888C>T	XP_016855823.1:p.Pro963Leu
XM_017000335.1:c.2882C>T	XP_016855824.1:p.Pro961Leu
XM_017000336.1:c.2888C>T	XP_016855825.1:p.Pro963Leu
XM_017000337.1:c.1286C>T	XP_016855826.1:p.Pro429Leu
XR_946545.1:n.3149C>T