Canonical Allele Identifier: CA341171476

Gene: COL11A1

Linked Data

• gnomAD v4: 1-102946953-A-T
• MyVariant Identifiers: chr1:g.103412509A>T (hg19) ; chr1:g.102946953A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102946953A>T , CM000663.2:g.102946953A>T	GRCh38
NC_000001.10:g.103412509A>T , CM000663.1:g.103412509A>T	GRCh37
NC_000001.9:g.103185097A>T	NCBI36
NG_008033.1:g.166544T>A
NG_008033.2:g.166544T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.3172T>A MANE Select	ENSP00000359114.3:p.Ser1058Thr
ENST00000353414.8:c.3055T>A	ENSP00000302551.6:p.Ser1019Thr
ENST00000358392.6:c.3208T>A	ENSP00000351163.2:p.Ser1070Thr
ENST00000370096.7:c.3172T>A	ENSP00000359114.3:p.Ser1058Thr
ENST00000512756.5:c.2824T>A	ENSP00000426533.1:p.Ser942Thr
ENST00000635193.1:c.2506T>A
NM_001190709.1:c.3055T>A	NP_001177638.1:p.Ser1019Thr
NM_001854.3:c.3172T>A	NP_001845.3:p.Ser1058Thr
NM_080629.2:c.3208T>A	NP_542196.2:p.Ser1070Thr
NM_080630.3:c.2824T>A	NP_542197.3:p.Ser942Thr
XM_011540719.1:c.3172T>A	XP_011539021.1:p.Ser1058Thr
XM_011540720.1:c.1405T>A	XP_011539022.1:p.Ser469Thr
XM_011540721.1:c.760T>A	XP_011539023.1:p.Ser254Thr
NR_134980.1:n.3506T>A
XM_017000334.1:c.3325T>A	XP_016855823.1:p.Ser1109Thr
XM_017000335.1:c.3319T>A	XP_016855824.1:p.Ser1107Thr
XM_017000336.1:c.3325T>A	XP_016855825.1:p.Ser1109Thr
XM_017000337.1:c.1723T>A	XP_016855826.1:p.Ser575Thr
NM_001854.4:c.3172T>A MANE Select	NP_001845.3:p.Ser1058Thr
NM_080630.4:c.2824T>A	NP_542197.3:p.Ser942Thr
NR_134980.2:n.3532T>A
NM_001190709.2:c.3055T>A	NP_001177638.1:p.Ser1019Thr
NM_080629.3:c.3208T>A	NP_542196.2:p.Ser1070Thr