Canonical Allele Identifier: CA341163593

Gene: COL11A1

Linked Data

• MyVariant Identifiers: chr1:g.103444628C>G (hg19) ; chr1:g.102979072C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102979072C>G , CM000663.2:g.102979072C>G	GRCh38
NC_000001.10:g.103444628C>G , CM000663.1:g.103444628C>G	GRCh37
NC_000001.9:g.103217216C>G	NCBI36
NG_008033.1:g.134425G>C
NG_008033.2:g.134425G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.2643G>C MANE Select	ENSP00000359114.3:p.Gln881His
ENST00000353414.8:c.2526G>C	ENSP00000302551.6:p.Gln842His
ENST00000358392.6:c.2679G>C	ENSP00000351163.2:p.Gln893His
ENST00000370096.7:c.2643G>C	ENSP00000359114.3:p.Gln881His
ENST00000512756.5:c.2295G>C	ENSP00000426533.1:p.Gln765His
ENST00000635193.1:c.1977G>C
NM_001190709.1:c.2526G>C	NP_001177638.1:p.Gln842His
NM_001854.3:c.2643G>C	NP_001845.3:p.Gln881His
NM_080629.2:c.2679G>C	NP_542196.2:p.Gln893His
NM_080630.3:c.2295G>C	NP_542197.3:p.Gln765His
XM_011540719.1:c.2643G>C	XP_011539021.1:p.Gln881His
XM_011540720.1:c.876G>C	XP_011539022.1:p.Gln292His
XM_011540721.1:c.231G>C	XP_011539023.1:p.Gln77His
XR_946545.1:n.3057G>C
NR_134980.1:n.2977G>C
XM_017000334.1:c.2796G>C	XP_016855823.1:p.Gln932His
XM_017000335.1:c.2790G>C	XP_016855824.1:p.Gln930His
XM_017000336.1:c.2796G>C	XP_016855825.1:p.Gln932His
XM_017000337.1:c.1194G>C	XP_016855826.1:p.Gln398His
NM_001854.4:c.2643G>C MANE Select	NP_001845.3:p.Gln881His
NM_080630.4:c.2295G>C	NP_542197.3:p.Gln765His
NR_134980.2:n.3003G>C
NM_001190709.2:c.2526G>C	NP_001177638.1:p.Gln842His
NM_080629.3:c.2679G>C	NP_542196.2:p.Gln893His