Canonical Allele Identifier: CA341169808

Gene: COL11A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102940368G>A , CM000663.2:g.102940368G>A	GRCh38
NC_000001.10:g.103405924G>A , CM000663.1:g.103405924G>A	GRCh37
NC_000001.9:g.103178512G>A	NCBI36
NG_008033.1:g.173129C>T
NG_008033.2:g.173129C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001854.4:c.3343C>T MANE Select	NP_001845.3:p.Pro1115Ser
ENST00000370096.9:c.3343C>T MANE Select	ENSP00000359114.3:p.Pro1115Ser
NM_001190709.1:c.3226C>T	NP_001177638.1:p.Pro1076Ser
NM_001190709.2:c.3226C>T	NP_001177638.1:p.Pro1076Ser
NM_001854.3:c.3343C>T	NP_001845.3:p.Pro1115Ser
NM_080629.2:c.3379C>T	NP_542196.2:p.Pro1127Ser
NM_080629.3:c.3379C>T	NP_542196.2:p.Pro1127Ser
NM_080630.3:c.2995C>T	NP_542197.3:p.Pro999Ser
NM_080630.4:c.2995C>T	NP_542197.3:p.Pro999Ser
NR_134980.1:n.3677C>T
NR_134980.2:n.3703C>T
ENST00000353414.8:c.3226C>T	ENSP00000302551.6:p.Pro1076Ser
ENST00000358392.6:c.3379C>T	ENSP00000351163.2:p.Pro1127Ser
ENST00000370096.7:c.3343C>T	ENSP00000359114.3:p.Pro1115Ser
ENST00000512756.5:c.2995C>T	ENSP00000426533.1:p.Pro999Ser
ENST00000635193.1:c.2677C>T
XM_011540719.1:c.3343C>T	XP_011539021.1:p.Pro1115Ser
XM_011540720.1:c.1576C>T	XP_011539022.1:p.Pro526Ser
XM_011540721.1:c.931C>T	XP_011539023.1:p.Pro311Ser
XM_017000334.1:c.3496C>T	XP_016855823.1:p.Pro1166Ser
XM_017000335.1:c.3490C>T	XP_016855824.1:p.Pro1164Ser
XM_017000336.1:c.3496C>T	XP_016855825.1:p.Pro1166Ser
XM_017000337.1:c.1894C>T	XP_016855826.1:p.Pro632Ser