Canonical Allele Identifier: CA973507

Gene: COL11A1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102888889G>A , CM000663.2:g.102888889G>A	GRCh38
NC_000001.10:g.103354445G>A , CM000663.1:g.103354445G>A	GRCh37
NC_000001.9:g.103127033G>A	NCBI36
NG_008033.1:g.224608C>T
NG_008033.2:g.224608C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.4495C>T MANE Select	ENSP00000359114.3:p.Pro1499Ser
ENST00000353414.8:c.4378C>T	ENSP00000302551.6:p.Pro1460Ser
ENST00000358392.6:c.4531C>T	ENSP00000351163.2:p.Pro1511Ser
ENST00000370096.7:c.4495C>T	ENSP00000359114.3:p.Pro1499Ser
ENST00000512756.5:c.4147C>T	ENSP00000426533.1:p.Pro1383Ser
ENST00000635193.1:c.3829C>T
NM_001190709.1:c.4378C>T	NP_001177638.1:p.Pro1460Ser
NM_001854.3:c.4495C>T	NP_001845.3:p.Pro1499Ser
NM_080629.2:c.4531C>T	NP_542196.2:p.Pro1511Ser
NM_080630.3:c.4147C>T	NP_542197.3:p.Pro1383Ser
XM_011540720.1:c.2728C>T	XP_011539022.1:p.Pro910Ser
XM_011540721.1:c.2083C>T	XP_011539023.1:p.Pro695Ser
NR_134980.1:n.4829C>T
XM_017000334.1:c.4648C>T	XP_016855823.1:p.Pro1550Ser
XM_017000335.1:c.4642C>T	XP_016855824.1:p.Pro1548Ser
XM_017000337.1:c.3046C>T	XP_016855826.1:p.Pro1016Ser
NM_001854.4:c.4495C>T MANE Select	NP_001845.3:p.Pro1499Ser
NM_080630.4:c.4147C>T	NP_542197.3:p.Pro1383Ser
NR_134980.2:n.4855C>T
NM_001190709.2:c.4378C>T	NP_001177638.1:p.Pro1460Ser
NM_080629.3:c.4531C>T	NP_542196.2:p.Pro1511Ser