Canonical Allele Identifier: CA341171495

Gene: COL11A1

Linked Data

• MyVariant Identifiers: chr1:g.103412512C>A (hg19) ; chr1:g.102946956C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102946956C>A , CM000663.2:g.102946956C>A	GRCh38
NC_000001.10:g.103412512C>A , CM000663.1:g.103412512C>A	GRCh37
NC_000001.9:g.103185100C>A	NCBI36
NG_008033.1:g.166541G>T
NG_008033.2:g.166541G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.3169G>T MANE Select	ENSP00000359114.3:p.Gly1057Cys
ENST00000353414.8:c.3052G>T	ENSP00000302551.6:p.Gly1018Cys
ENST00000358392.6:c.3205G>T	ENSP00000351163.2:p.Gly1069Cys
ENST00000370096.7:c.3169G>T	ENSP00000359114.3:p.Gly1057Cys
ENST00000512756.5:c.2821G>T	ENSP00000426533.1:p.Gly941Cys
ENST00000635193.1:c.2503G>T
NM_001190709.1:c.3052G>T	NP_001177638.1:p.Gly1018Cys
NM_001854.3:c.3169G>T	NP_001845.3:p.Gly1057Cys
NM_080629.2:c.3205G>T	NP_542196.2:p.Gly1069Cys
NM_080630.3:c.2821G>T	NP_542197.3:p.Gly941Cys
XM_011540719.1:c.3169G>T	XP_011539021.1:p.Gly1057Cys
XM_011540720.1:c.1402G>T	XP_011539022.1:p.Gly468Cys
XM_011540721.1:c.757G>T	XP_011539023.1:p.Gly253Cys
NR_134980.1:n.3503G>T
XM_017000334.1:c.3322G>T	XP_016855823.1:p.Gly1108Cys
XM_017000335.1:c.3316G>T	XP_016855824.1:p.Gly1106Cys
XM_017000336.1:c.3322G>T	XP_016855825.1:p.Gly1108Cys
XM_017000337.1:c.1720G>T	XP_016855826.1:p.Gly574Cys
NM_001854.4:c.3169G>T MANE Select	NP_001845.3:p.Gly1057Cys
NM_080630.4:c.2821G>T	NP_542197.3:p.Gly941Cys
NR_134980.2:n.3529G>T
NM_001190709.2:c.3052G>T	NP_001177638.1:p.Gly1018Cys
NM_080629.3:c.3205G>T	NP_542196.2:p.Gly1069Cys