Canonical Allele Identifier: CA341161397

Gene: COL11A1

Linked Data

• MyVariant Identifiers: chr1:g.103380306G>T (hg19) ; chr1:g.102914750G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102914750G>T , CM000663.2:g.102914750G>T	GRCh38
NC_000001.10:g.103380306G>T , CM000663.1:g.103380306G>T	GRCh37
NC_000001.9:g.103152894G>T	NCBI36
NG_008033.1:g.198747C>A
NG_008033.2:g.198747C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.3878C>A MANE Select	ENSP00000359114.3:p.Pro1293Gln
ENST00000353414.8:c.3761C>A	ENSP00000302551.6:p.Pro1254Gln
ENST00000358392.6:c.3914C>A	ENSP00000351163.2:p.Pro1305Gln
ENST00000370096.7:c.3878C>A	ENSP00000359114.3:p.Pro1293Gln
ENST00000512756.5:c.3530C>A	ENSP00000426533.1:p.Pro1177Gln
ENST00000635193.1:c.3212C>A
NM_001190709.1:c.3761C>A	NP_001177638.1:p.Pro1254Gln
NM_001854.3:c.3878C>A	NP_001845.3:p.Pro1293Gln
NM_080629.2:c.3914C>A	NP_542196.2:p.Pro1305Gln
NM_080630.3:c.3530C>A	NP_542197.3:p.Pro1177Gln
XM_011540719.1:c.3878C>A	XP_011539021.1:p.Pro1293Gln
XM_011540720.1:c.2111C>A	XP_011539022.1:p.Pro704Gln
XM_011540721.1:c.1466C>A	XP_011539023.1:p.Pro489Gln
NR_134980.1:n.4212C>A
XM_017000334.1:c.4031C>A	XP_016855823.1:p.Pro1344Gln
XM_017000335.1:c.4025C>A	XP_016855824.1:p.Pro1342Gln
XM_017000336.1:c.4031C>A	XP_016855825.1:p.Pro1344Gln
XM_017000337.1:c.2429C>A	XP_016855826.1:p.Pro810Gln
NM_001854.4:c.3878C>A MANE Select	NP_001845.3:p.Pro1293Gln
NM_080630.4:c.3530C>A	NP_542197.3:p.Pro1177Gln
NR_134980.2:n.4238C>A
NM_001190709.2:c.3761C>A	NP_001177638.1:p.Pro1254Gln
NM_080629.3:c.3914C>A	NP_542196.2:p.Pro1305Gln