Canonical Allele Identifier: CA341161366

Gene: COL11A1

Linked Data

• dbSNP Id: rs1432341386
• gnomAD v4: 1-102914744-G-A
• MyVariant Identifiers: chr1:g.103380300G>A (hg19) ; chr1:g.102914744G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000370096.9:c.3884C>T MANE Select	ENSP00000359114.3:p.Ala1295Val
ENST00000353414.8:c.3767C>T	ENSP00000302551.6:p.Ala1256Val
ENST00000358392.6:c.3920C>T	ENSP00000351163.2:p.Ala1307Val
ENST00000370096.7:c.3884C>T	ENSP00000359114.3:p.Ala1295Val
ENST00000512756.5:c.3536C>T	ENSP00000426533.1:p.Ala1179Val
ENST00000635193.1:c.3218C>T
NM_001190709.1:c.3767C>T	NP_001177638.1:p.Ala1256Val
NM_001854.3:c.3884C>T	NP_001845.3:p.Ala1295Val
NM_080629.2:c.3920C>T	NP_542196.2:p.Ala1307Val
NM_080630.3:c.3536C>T	NP_542197.3:p.Ala1179Val
XM_011540719.1:c.3884C>T	XP_011539021.1:p.Ala1295Val
XM_011540720.1:c.2117C>T	XP_011539022.1:p.Ala706Val
XM_011540721.1:c.1472C>T	XP_011539023.1:p.Ala491Val
NR_134980.1:n.4218C>T
XM_017000334.1:c.4037C>T	XP_016855823.1:p.Ala1346Val
XM_017000335.1:c.4031C>T	XP_016855824.1:p.Ala1344Val
XM_017000336.1:c.4037C>T	XP_016855825.1:p.Ala1346Val
XM_017000337.1:c.2435C>T	XP_016855826.1:p.Ala812Val
NM_001854.4:c.3884C>T MANE Select	NP_001845.3:p.Ala1295Val
NM_080630.4:c.3536C>T	NP_542197.3:p.Ala1179Val
NR_134980.2:n.4244C>T
NM_001190709.2:c.3767C>T	NP_001177638.1:p.Ala1256Val
NM_080629.3:c.3920C>T	NP_542196.2:p.Ala1307Val