Canonical Allele Identifier: CA341171318

Gene: COL11A1

Linked Data

• MyVariant Identifiers: chr1:g.103412479C>G (hg19) ; chr1:g.102946923C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102946923C>G , CM000663.2:g.102946923C>G	GRCh38
NC_000001.10:g.103412479C>G , CM000663.1:g.103412479C>G	GRCh37
NC_000001.9:g.103185067C>G	NCBI36
NG_008033.1:g.166574G>C
NG_008033.2:g.166574G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.3202G>C MANE Select	ENSP00000359114.3:p.Ala1068Pro
ENST00000353414.8:c.3085G>C	ENSP00000302551.6:p.Ala1029Pro
ENST00000358392.6:c.3238G>C	ENSP00000351163.2:p.Ala1080Pro
ENST00000370096.7:c.3202G>C	ENSP00000359114.3:p.Ala1068Pro
ENST00000512756.5:c.2854G>C	ENSP00000426533.1:p.Ala952Pro
ENST00000635193.1:c.2536G>C
NM_001190709.1:c.3085G>C	NP_001177638.1:p.Ala1029Pro
NM_001854.3:c.3202G>C	NP_001845.3:p.Ala1068Pro
NM_080629.2:c.3238G>C	NP_542196.2:p.Ala1080Pro
NM_080630.3:c.2854G>C	NP_542197.3:p.Ala952Pro
XM_011540719.1:c.3202G>C	XP_011539021.1:p.Ala1068Pro
XM_011540720.1:c.1435G>C	XP_011539022.1:p.Ala479Pro
XM_011540721.1:c.790G>C	XP_011539023.1:p.Ala264Pro
NR_134980.1:n.3536G>C
XM_017000334.1:c.3355G>C	XP_016855823.1:p.Ala1119Pro
XM_017000335.1:c.3349G>C	XP_016855824.1:p.Ala1117Pro
XM_017000336.1:c.3355G>C	XP_016855825.1:p.Ala1119Pro
XM_017000337.1:c.1753G>C	XP_016855826.1:p.Ala585Pro
NM_001854.4:c.3202G>C MANE Select	NP_001845.3:p.Ala1068Pro
NM_080630.4:c.2854G>C	NP_542197.3:p.Ala952Pro
NR_134980.2:n.3562G>C
NM_001190709.2:c.3085G>C	NP_001177638.1:p.Ala1029Pro
NM_080629.3:c.3238G>C	NP_542196.2:p.Ala1080Pro