Canonical Allele Identifier: CA341162842

Gene: COL11A1

Linked Data

• MyVariant Identifiers: chr1:g.103444265C>A (hg19) ; chr1:g.102978709C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102978709C>A , CM000663.2:g.102978709C>A	GRCh38
NC_000001.10:g.103444265C>A , CM000663.1:g.103444265C>A	GRCh37
NC_000001.9:g.103216853C>A	NCBI36
NG_008033.1:g.134788G>T
NG_008033.2:g.134788G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.2753G>T MANE Select	ENSP00000359114.3:p.Arg918Ile
ENST00000353414.8:c.2636G>T	ENSP00000302551.6:p.Arg879Ile
ENST00000358392.6:c.2789G>T	ENSP00000351163.2:p.Arg930Ile
ENST00000370096.7:c.2753G>T	ENSP00000359114.3:p.Arg918Ile
ENST00000512756.5:c.2405G>T	ENSP00000426533.1:p.Arg802Ile
ENST00000635193.1:c.2087G>T
NM_001190709.1:c.2636G>T	NP_001177638.1:p.Arg879Ile
NM_001854.3:c.2753G>T	NP_001845.3:p.Arg918Ile
NM_080629.2:c.2789G>T	NP_542196.2:p.Arg930Ile
NM_080630.3:c.2405G>T	NP_542197.3:p.Arg802Ile
XM_011540719.1:c.2753G>T	XP_011539021.1:p.Arg918Ile
XM_011540720.1:c.986G>T	XP_011539022.1:p.Arg329Ile
XM_011540721.1:c.341G>T	XP_011539023.1:p.Arg114Ile
XR_946545.1:n.3167G>T
NR_134980.1:n.3087G>T
XM_017000334.1:c.2906G>T	XP_016855823.1:p.Arg969Ile
XM_017000335.1:c.2900G>T	XP_016855824.1:p.Arg967Ile
XM_017000336.1:c.2906G>T	XP_016855825.1:p.Arg969Ile
XM_017000337.1:c.1304G>T	XP_016855826.1:p.Arg435Ile
NM_001854.4:c.2753G>T MANE Select	NP_001845.3:p.Arg918Ile
NM_080630.4:c.2405G>T	NP_542197.3:p.Arg802Ile
NR_134980.2:n.3113G>T
NM_001190709.2:c.2636G>T	NP_001177638.1:p.Arg879Ile
NM_080629.3:c.2789G>T	NP_542196.2:p.Arg930Ile