Canonical Allele Identifier: CA341171338

Gene: COL11A1

Linked Data

• MyVariant Identifiers: chr1:g.103412482T>A (hg19) ; chr1:g.102946926T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102946926T>A , CM000663.2:g.102946926T>A	GRCh38
NC_000001.10:g.103412482T>A , CM000663.1:g.103412482T>A	GRCh37
NC_000001.9:g.103185070T>A	NCBI36
NG_008033.1:g.166571A>T
NG_008033.2:g.166571A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.3199A>T MANE Select	ENSP00000359114.3:p.Thr1067Ser
ENST00000353414.8:c.3082A>T	ENSP00000302551.6:p.Thr1028Ser
ENST00000358392.6:c.3235A>T	ENSP00000351163.2:p.Thr1079Ser
ENST00000370096.7:c.3199A>T	ENSP00000359114.3:p.Thr1067Ser
ENST00000512756.5:c.2851A>T	ENSP00000426533.1:p.Thr951Ser
ENST00000635193.1:c.2533A>T
NM_001190709.1:c.3082A>T	NP_001177638.1:p.Thr1028Ser
NM_001854.3:c.3199A>T	NP_001845.3:p.Thr1067Ser
NM_080629.2:c.3235A>T	NP_542196.2:p.Thr1079Ser
NM_080630.3:c.2851A>T	NP_542197.3:p.Thr951Ser
XM_011540719.1:c.3199A>T	XP_011539021.1:p.Thr1067Ser
XM_011540720.1:c.1432A>T	XP_011539022.1:p.Thr478Ser
XM_011540721.1:c.787A>T	XP_011539023.1:p.Thr263Ser
NR_134980.1:n.3533A>T
XM_017000334.1:c.3352A>T	XP_016855823.1:p.Thr1118Ser
XM_017000335.1:c.3346A>T	XP_016855824.1:p.Thr1116Ser
XM_017000336.1:c.3352A>T	XP_016855825.1:p.Thr1118Ser
XM_017000337.1:c.1750A>T	XP_016855826.1:p.Thr584Ser
NM_001854.4:c.3199A>T MANE Select	NP_001845.3:p.Thr1067Ser
NM_080630.4:c.2851A>T	NP_542197.3:p.Thr951Ser
NR_134980.2:n.3559A>T
NM_001190709.2:c.3082A>T	NP_001177638.1:p.Thr1028Ser
NM_080629.3:c.3235A>T	NP_542196.2:p.Thr1079Ser