Canonical Allele Identifier: CA341161364

Gene: COL11A1

Linked Data

• MyVariant Identifiers: chr1:g.103380300G>T (hg19) ; chr1:g.102914744G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102914744G>T , CM000663.2:g.102914744G>T	GRCh38
NC_000001.10:g.103380300G>T , CM000663.1:g.103380300G>T	GRCh37
NC_000001.9:g.103152888G>T	NCBI36
NG_008033.1:g.198753C>A
NG_008033.2:g.198753C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.3884C>A MANE Select	ENSP00000359114.3:p.Ala1295Asp
ENST00000353414.8:c.3767C>A	ENSP00000302551.6:p.Ala1256Asp
ENST00000358392.6:c.3920C>A	ENSP00000351163.2:p.Ala1307Asp
ENST00000370096.7:c.3884C>A	ENSP00000359114.3:p.Ala1295Asp
ENST00000512756.5:c.3536C>A	ENSP00000426533.1:p.Ala1179Asp
ENST00000635193.1:c.3218C>A
NM_001190709.1:c.3767C>A	NP_001177638.1:p.Ala1256Asp
NM_001854.3:c.3884C>A	NP_001845.3:p.Ala1295Asp
NM_080629.2:c.3920C>A	NP_542196.2:p.Ala1307Asp
NM_080630.3:c.3536C>A	NP_542197.3:p.Ala1179Asp
XM_011540719.1:c.3884C>A	XP_011539021.1:p.Ala1295Asp
XM_011540720.1:c.2117C>A	XP_011539022.1:p.Ala706Asp
XM_011540721.1:c.1472C>A	XP_011539023.1:p.Ala491Asp
NR_134980.1:n.4218C>A
XM_017000334.1:c.4037C>A	XP_016855823.1:p.Ala1346Asp
XM_017000335.1:c.4031C>A	XP_016855824.1:p.Ala1344Asp
XM_017000336.1:c.4037C>A	XP_016855825.1:p.Ala1346Asp
XM_017000337.1:c.2435C>A	XP_016855826.1:p.Ala812Asp
NM_001854.4:c.3884C>A MANE Select	NP_001845.3:p.Ala1295Asp
NM_080630.4:c.3536C>A	NP_542197.3:p.Ala1179Asp
NR_134980.2:n.4244C>A
NM_001190709.2:c.3767C>A	NP_001177638.1:p.Ala1256Asp
NM_080629.3:c.3920C>A	NP_542196.2:p.Ala1307Asp