Canonical Allele Identifier: CA341170928

Gene: COL11A1

Linked Data

• MyVariant Identifiers: chr1:g.103412424G>A (hg19) ; chr1:g.102946868G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102946868G>A , CM000663.2:g.102946868G>A	GRCh38
NC_000001.10:g.103412424G>A , CM000663.1:g.103412424G>A	GRCh37
NC_000001.9:g.103185012G>A	NCBI36
NG_008033.1:g.166629C>T
NG_008033.2:g.166629C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.3257C>T MANE Select	ENSP00000359114.3:p.Ala1086Val
ENST00000353414.8:c.3140C>T	ENSP00000302551.6:p.Ala1047Val
ENST00000358392.6:c.3293C>T	ENSP00000351163.2:p.Ala1098Val
ENST00000370096.7:c.3257C>T	ENSP00000359114.3:p.Ala1086Val
ENST00000512756.5:c.2909C>T	ENSP00000426533.1:p.Ala970Val
ENST00000635193.1:c.2591C>T
NM_001190709.1:c.3140C>T	NP_001177638.1:p.Ala1047Val
NM_001854.3:c.3257C>T	NP_001845.3:p.Ala1086Val
NM_080629.2:c.3293C>T	NP_542196.2:p.Ala1098Val
NM_080630.3:c.2909C>T	NP_542197.3:p.Ala970Val
XM_011540719.1:c.3257C>T	XP_011539021.1:p.Ala1086Val
XM_011540720.1:c.1490C>T	XP_011539022.1:p.Ala497Val
XM_011540721.1:c.845C>T	XP_011539023.1:p.Ala282Val
NR_134980.1:n.3591C>T
XM_017000334.1:c.3410C>T	XP_016855823.1:p.Ala1137Val
XM_017000335.1:c.3404C>T	XP_016855824.1:p.Ala1135Val
XM_017000336.1:c.3410C>T	XP_016855825.1:p.Ala1137Val
XM_017000337.1:c.1808C>T	XP_016855826.1:p.Ala603Val
NM_001854.4:c.3257C>T MANE Select	NP_001845.3:p.Ala1086Val
NM_080630.4:c.2909C>T	NP_542197.3:p.Ala970Val
NR_134980.2:n.3617C>T
NM_001190709.2:c.3140C>T	NP_001177638.1:p.Ala1047Val
NM_080629.3:c.3293C>T	NP_542196.2:p.Ala1098Val