Canonical Allele Identifier: CA419199874
Gene: COL11A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.103444276A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.102978720A>C , CM000663.2:g.102978720A>C GRCh38
NC_000001.10:g.103444276A>C , CM000663.1:g.103444276A>C GRCh37
NC_000001.9:g.103216864A>C NCBI36
NG_008033.1:g.134777T>G
NG_008033.2:g.134777T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370096.9:c.2742T>G MANE Select ENSP00000359114.3:p.Pro914=
ENST00000353414.8:c.2625T>G ENSP00000302551.6:p.Pro875=
ENST00000358392.6:c.2778T>G ENSP00000351163.2:p.Pro926=
ENST00000370096.7:c.2742T>G ENSP00000359114.3:p.Pro914=
ENST00000512756.5:c.2394T>G ENSP00000426533.1:p.Pro798=
ENST00000635193.1:c.2076T>G
NM_001190709.1:c.2625T>G NP_001177638.1:p.Pro875=
NM_001854.3:c.2742T>G NP_001845.3:p.Pro914=
NM_080629.2:c.2778T>G NP_542196.2:p.Pro926=
NM_080630.3:c.2394T>G NP_542197.3:p.Pro798=
XM_011540719.1:c.2742T>G XP_011539021.1:p.Pro914=
XM_011540720.1:c.975T>G XP_011539022.1:p.Pro325=
XM_011540721.1:c.330T>G XP_011539023.1:p.Pro110=
XR_946545.1:n.3156T>G
NR_134980.1:n.3076T>G
XM_017000334.1:c.2895T>G XP_016855823.1:p.Pro965=
XM_017000335.1:c.2889T>G XP_016855824.1:p.Pro963=
XM_017000336.1:c.2895T>G XP_016855825.1:p.Pro965=
XM_017000337.1:c.1293T>G XP_016855826.1:p.Pro431=
NM_001854.4:c.2742T>G MANE Select NP_001845.3:p.Pro914=
NM_080630.4:c.2394T>G NP_542197.3:p.Pro798=
NR_134980.2:n.3102T>G
NM_001190709.2:c.2625T>G NP_001177638.1:p.Pro875=
NM_080629.3:c.2778T>G NP_542196.2:p.Pro926=