Canonical Allele Identifier: CA341163670

Gene: COL11A1

Linked Data

• MyVariant Identifiers: chr1:g.103444639G>C (hg19) ; chr1:g.102979083G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102979083G>C , CM000663.2:g.102979083G>C	GRCh38
NC_000001.10:g.103444639G>C , CM000663.1:g.103444639G>C	GRCh37
NC_000001.9:g.103217227G>C	NCBI36
NG_008033.1:g.134414C>G
NG_008033.2:g.134414C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.2632C>G MANE Select	ENSP00000359114.3:p.Pro878Ala
ENST00000353414.8:c.2515C>G	ENSP00000302551.6:p.Pro839Ala
ENST00000358392.6:c.2668C>G	ENSP00000351163.2:p.Pro890Ala
ENST00000370096.7:c.2632C>G	ENSP00000359114.3:p.Pro878Ala
ENST00000512756.5:c.2284C>G	ENSP00000426533.1:p.Pro762Ala
ENST00000635193.1:c.1966C>G
NM_001190709.1:c.2515C>G	NP_001177638.1:p.Pro839Ala
NM_001854.3:c.2632C>G	NP_001845.3:p.Pro878Ala
NM_080629.2:c.2668C>G	NP_542196.2:p.Pro890Ala
NM_080630.3:c.2284C>G	NP_542197.3:p.Pro762Ala
XM_011540719.1:c.2632C>G	XP_011539021.1:p.Pro878Ala
XM_011540720.1:c.865C>G	XP_011539022.1:p.Pro289Ala
XM_011540721.1:c.220C>G	XP_011539023.1:p.Pro74Ala
XR_946545.1:n.3046C>G
NR_134980.1:n.2966C>G
XM_017000334.1:c.2785C>G	XP_016855823.1:p.Pro929Ala
XM_017000335.1:c.2779C>G	XP_016855824.1:p.Pro927Ala
XM_017000336.1:c.2785C>G	XP_016855825.1:p.Pro929Ala
XM_017000337.1:c.1183C>G	XP_016855826.1:p.Pro395Ala
NM_001854.4:c.2632C>G MANE Select	NP_001845.3:p.Pro878Ala
NM_080630.4:c.2284C>G	NP_542197.3:p.Pro762Ala
NR_134980.2:n.2992C>G
NM_001190709.2:c.2515C>G	NP_001177638.1:p.Pro839Ala
NM_080629.3:c.2668C>G	NP_542196.2:p.Pro890Ala