Canonical Allele Identifier: CA341171064

Gene: COL11A1

Linked Data

• gnomAD v4: 1-102946892-C-T
• MyVariant Identifiers: chr1:g.103412448C>T (hg19) ; chr1:g.102946892C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102946892C>T , CM000663.2:g.102946892C>T	GRCh38
NC_000001.10:g.103412448C>T , CM000663.1:g.103412448C>T	GRCh37
NC_000001.9:g.103185036C>T	NCBI36
NG_008033.1:g.166605G>A
NG_008033.2:g.166605G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.3233G>A MANE Select	ENSP00000359114.3:p.Gly1078Glu
ENST00000353414.8:c.3116G>A	ENSP00000302551.6:p.Gly1039Glu
ENST00000358392.6:c.3269G>A	ENSP00000351163.2:p.Gly1090Glu
ENST00000370096.7:c.3233G>A	ENSP00000359114.3:p.Gly1078Glu
ENST00000512756.5:c.2885G>A	ENSP00000426533.1:p.Gly962Glu
ENST00000635193.1:c.2567G>A
NM_001190709.1:c.3116G>A	NP_001177638.1:p.Gly1039Glu
NM_001854.3:c.3233G>A	NP_001845.3:p.Gly1078Glu
NM_080629.2:c.3269G>A	NP_542196.2:p.Gly1090Glu
NM_080630.3:c.2885G>A	NP_542197.3:p.Gly962Glu
XM_011540719.1:c.3233G>A	XP_011539021.1:p.Gly1078Glu
XM_011540720.1:c.1466G>A	XP_011539022.1:p.Gly489Glu
XM_011540721.1:c.821G>A	XP_011539023.1:p.Gly274Glu
NR_134980.1:n.3567G>A
XM_017000334.1:c.3386G>A	XP_016855823.1:p.Gly1129Glu
XM_017000335.1:c.3380G>A	XP_016855824.1:p.Gly1127Glu
XM_017000336.1:c.3386G>A	XP_016855825.1:p.Gly1129Glu
XM_017000337.1:c.1784G>A	XP_016855826.1:p.Gly595Glu
NM_001854.4:c.3233G>A MANE Select	NP_001845.3:p.Gly1078Glu
NM_080630.4:c.2885G>A	NP_542197.3:p.Gly962Glu
NR_134980.2:n.3593G>A
NM_001190709.2:c.3116G>A	NP_001177638.1:p.Gly1039Glu
NM_080629.3:c.3269G>A	NP_542196.2:p.Gly1090Glu