Canonical Allele Identifier: CA973754

Gene: COL11A1

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102914362G>A , CM000663.2:g.102914362G>A	GRCh38
NC_000001.10:g.103379918G>A , CM000663.1:g.103379918G>A	GRCh37
NC_000001.9:g.103152506G>A	NCBI36
NG_008033.1:g.199135C>T
NG_008033.2:g.199135C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.3968C>T MANE Select	ENSP00000359114.3:p.Pro1323Leu
ENST00000353414.8:c.3851C>T	ENSP00000302551.6:p.Pro1284Leu
ENST00000358392.6:c.4004C>T	ENSP00000351163.2:p.Pro1335Leu
ENST00000370096.7:c.3968C>T	ENSP00000359114.3:p.Pro1323Leu
ENST00000512756.5:c.3620C>T	ENSP00000426533.1:p.Pro1207Leu
ENST00000635193.1:c.3302C>T
NM_001190709.1:c.3851C>T	NP_001177638.1:p.Pro1284Leu
NM_001854.3:c.3968C>T	NP_001845.3:p.Pro1323Leu
NM_080629.2:c.4004C>T	NP_542196.2:p.Pro1335Leu
NM_080630.3:c.3620C>T	NP_542197.3:p.Pro1207Leu
XM_011540719.1:c.3968C>T	XP_011539021.1:p.Pro1323Leu
XM_011540720.1:c.2201C>T	XP_011539022.1:p.Pro734Leu
XM_011540721.1:c.1556C>T	XP_011539023.1:p.Pro519Leu
NR_134980.1:n.4302C>T
XM_017000334.1:c.4121C>T	XP_016855823.1:p.Pro1374Leu
XM_017000335.1:c.4115C>T	XP_016855824.1:p.Pro1372Leu
XM_017000336.1:c.4121C>T	XP_016855825.1:p.Pro1374Leu
XM_017000337.1:c.2519C>T	XP_016855826.1:p.Pro840Leu
NM_001854.4:c.3968C>T MANE Select	NP_001845.3:p.Pro1323Leu
NM_080630.4:c.3620C>T	NP_542197.3:p.Pro1207Leu
NR_134980.2:n.4328C>T
NM_001190709.2:c.3851C>T	NP_001177638.1:p.Pro1284Leu
NM_080629.3:c.4004C>T	NP_542196.2:p.Pro1335Leu