Canonical Allele Identifier: CA341162886

Gene: COL11A1

Linked Data

• dbSNP Id: rs1662740786
• MyVariant Identifiers: chr1:g.103444274G>A (hg19) ; chr1:g.102978718G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102978718G>A , CM000663.2:g.102978718G>A	GRCh38
NC_000001.10:g.103444274G>A , CM000663.1:g.103444274G>A	GRCh37
NC_000001.9:g.103216862G>A	NCBI36
NG_008033.1:g.134779C>T
NG_008033.2:g.134779C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.2744C>T MANE Select	ENSP00000359114.3:p.Pro915Leu
ENST00000353414.8:c.2627C>T	ENSP00000302551.6:p.Pro876Leu
ENST00000358392.6:c.2780C>T	ENSP00000351163.2:p.Pro927Leu
ENST00000370096.7:c.2744C>T	ENSP00000359114.3:p.Pro915Leu
ENST00000512756.5:c.2396C>T	ENSP00000426533.1:p.Pro799Leu
ENST00000635193.1:c.2078C>T
NM_001190709.1:c.2627C>T	NP_001177638.1:p.Pro876Leu
NM_001854.3:c.2744C>T	NP_001845.3:p.Pro915Leu
NM_080629.2:c.2780C>T	NP_542196.2:p.Pro927Leu
NM_080630.3:c.2396C>T	NP_542197.3:p.Pro799Leu
XM_011540719.1:c.2744C>T	XP_011539021.1:p.Pro915Leu
XM_011540720.1:c.977C>T	XP_011539022.1:p.Pro326Leu
XM_011540721.1:c.332C>T	XP_011539023.1:p.Pro111Leu
XR_946545.1:n.3158C>T
NR_134980.1:n.3078C>T
XM_017000334.1:c.2897C>T	XP_016855823.1:p.Pro966Leu
XM_017000335.1:c.2891C>T	XP_016855824.1:p.Pro964Leu
XM_017000336.1:c.2897C>T	XP_016855825.1:p.Pro966Leu
XM_017000337.1:c.1295C>T	XP_016855826.1:p.Pro432Leu
NM_001854.4:c.2744C>T MANE Select	NP_001845.3:p.Pro915Leu
NM_080630.4:c.2396C>T	NP_542197.3:p.Pro799Leu
NR_134980.2:n.3104C>T
NM_001190709.2:c.2627C>T	NP_001177638.1:p.Pro876Leu
NM_080629.3:c.2780C>T	NP_542196.2:p.Pro927Leu