Canonical Allele Identifier: CA341163207

Gene: COL11A1

Linked Data

• dbSNP Id: rs1218491017
• gnomAD v3: 1-102978870-G-A
• gnomAD v4: 1-102978870-G-A
• MyVariant Identifiers: chr1:g.103444426G>A (hg19) ; chr1:g.102978870G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102978870G>A , CM000663.2:g.102978870G>A	GRCh38
NC_000001.10:g.103444426G>A , CM000663.1:g.103444426G>A	GRCh37
NC_000001.9:g.103217014G>A	NCBI36
NG_008033.1:g.134627C>T
NG_008033.2:g.134627C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.2699C>T MANE Select	ENSP00000359114.3:p.Pro900Leu
ENST00000353414.8:c.2582C>T	ENSP00000302551.6:p.Pro861Leu
ENST00000358392.6:c.2735C>T	ENSP00000351163.2:p.Pro912Leu
ENST00000370096.7:c.2699C>T	ENSP00000359114.3:p.Pro900Leu
ENST00000512756.5:c.2351C>T	ENSP00000426533.1:p.Pro784Leu
ENST00000635193.1:c.2033C>T
NM_001190709.1:c.2582C>T	NP_001177638.1:p.Pro861Leu
NM_001854.3:c.2699C>T	NP_001845.3:p.Pro900Leu
NM_080629.2:c.2735C>T	NP_542196.2:p.Pro912Leu
NM_080630.3:c.2351C>T	NP_542197.3:p.Pro784Leu
XM_011540719.1:c.2699C>T	XP_011539021.1:p.Pro900Leu
XM_011540720.1:c.932C>T	XP_011539022.1:p.Pro311Leu
XM_011540721.1:c.287C>T	XP_011539023.1:p.Pro96Leu
XR_946545.1:n.3113C>T
NR_134980.1:n.3033C>T
XM_017000334.1:c.2852C>T	XP_016855823.1:p.Pro951Leu
XM_017000335.1:c.2846C>T	XP_016855824.1:p.Pro949Leu
XM_017000336.1:c.2852C>T	XP_016855825.1:p.Pro951Leu
XM_017000337.1:c.1250C>T	XP_016855826.1:p.Pro417Leu
NM_001854.4:c.2699C>T MANE Select	NP_001845.3:p.Pro900Leu
NM_080630.4:c.2351C>T	NP_542197.3:p.Pro784Leu
NR_134980.2:n.3059C>T
NM_001190709.2:c.2582C>T	NP_001177638.1:p.Pro861Leu
NM_080629.3:c.2735C>T	NP_542196.2:p.Pro912Leu