Canonical Allele Identifier: CA341156071

Gene: COL11A1

Linked Data

• MyVariant Identifiers: chr1:g.103427430C>G (hg19) ; chr1:g.102961874C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102961874C>G , CM000663.2:g.102961874C>G	GRCh38
NC_000001.10:g.103427430C>G , CM000663.1:g.103427430C>G	GRCh37
NC_000001.9:g.103200018C>G	NCBI36
NG_008033.1:g.151623G>C
NG_008033.2:g.151623G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.3160G>C MANE Select	ENSP00000359114.3:p.Gly1054Arg
ENST00000353414.8:c.3043G>C	ENSP00000302551.6:p.Gly1015Arg
ENST00000358392.6:c.3196G>C	ENSP00000351163.2:p.Gly1066Arg
ENST00000370096.7:c.3160G>C	ENSP00000359114.3:p.Gly1054Arg
ENST00000465209.1:n.168G>C
ENST00000512756.5:c.2812G>C	ENSP00000426533.1:p.Gly938Arg
ENST00000635193.1:c.2494G>C
NM_001190709.1:c.3043G>C	NP_001177638.1:p.Gly1015Arg
NM_001854.3:c.3160G>C	NP_001845.3:p.Gly1054Arg
NM_080629.2:c.3196G>C	NP_542196.2:p.Gly1066Arg
NM_080630.3:c.2812G>C	NP_542197.3:p.Gly938Arg
XM_011540719.1:c.3160G>C	XP_011539021.1:p.Gly1054Arg
XM_011540720.1:c.1393G>C	XP_011539022.1:p.Gly465Arg
XM_011540721.1:c.748G>C	XP_011539023.1:p.Gly250Arg
NR_134980.1:n.3494G>C
XM_017000334.1:c.3313G>C	XP_016855823.1:p.Gly1105Arg
XM_017000335.1:c.3307G>C	XP_016855824.1:p.Gly1103Arg
XM_017000336.1:c.3313G>C	XP_016855825.1:p.Gly1105Arg
XM_017000337.1:c.1711G>C	XP_016855826.1:p.Gly571Arg
NM_001854.4:c.3160G>C MANE Select	NP_001845.3:p.Gly1054Arg
NM_080630.4:c.2812G>C	NP_542197.3:p.Gly938Arg
NR_134980.2:n.3520G>C
NM_001190709.2:c.3043G>C	NP_001177638.1:p.Gly1015Arg
NM_080629.3:c.3196G>C	NP_542196.2:p.Gly1066Arg