Canonical Allele Identifier: CA247139

Gene: COL11A1

Linked Data

• ClinVar Variation Id: 198474
• ClinVar RCV Id: RCV000179833 ; RCV001102151 ; RCV001102150 ; RCV003488432 ; RCV004539687
• dbSNP Id: rs183130583
• ExAC: 1:103491102 G / A
• gnomAD v2: 1-103491102-G-A
• gnomAD v3: 1-103025546-G-A
• gnomAD v4: 1-103025546-G-A
• MyVariant Identifiers: chr1:g.103491102G>A (hg19) ; chr1:g.103025546G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.103025546G>A , CM000663.2:g.103025546G>A	GRCh38
NC_000001.10:g.103491102G>A , CM000663.1:g.103491102G>A	GRCh37
NC_000001.9:g.103263690G>A	NCBI36
NG_008033.1:g.87951C>T
NG_008033.2:g.87951C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.965C>T MANE Select	ENSP00000359114.3:p.Pro322Leu
ENST00000461720.6:c.1118C>T	ENSP00000494909.1:p.Pro373Leu
ENST00000644186.1:c.965C>T	ENSP00000493821.1:p.Pro322Leu
ENST00000645458.1:c.965C>T	ENSP00000494179.1:p.Pro322Leu
ENST00000647280.1:c.965C>T	ENSP00000494583.1:p.Pro322Leu
ENST00000353414.8:c.848C>T	ENSP00000302551.6:p.Pro283Leu
ENST00000358392.6:c.1001C>T	ENSP00000351163.2:p.Pro334Leu
ENST00000370096.7:c.965C>T	ENSP00000359114.3:p.Pro322Leu
ENST00000427239.5:c.1001C>T	ENSP00000408640.1:p.Pro334Leu
ENST00000512756.5:c.897+670C>T	ENSP00000426533.1:n.897+670C>T
ENST00000635193.1:c.283C>T
NM_001190709.1:c.848C>T	NP_001177638.1:p.Pro283Leu
NM_001854.3:c.965C>T	NP_001845.3:p.Pro322Leu
NM_080629.2:c.1001C>T	NP_542196.2:p.Pro334Leu
NM_080630.3:c.897+670C>T	NP_542197.3:n.897+670C>T
XM_011540719.1:c.965C>T	XP_011539021.1:p.Pro322Leu
XM_011540721.1:c.-1464C>T	XP_011539023.1:n.-1464C>T
XR_946545.1:n.1363C>T
NR_134980.1:n.1283C>T
XM_017000334.1:c.1118C>T	XP_016855823.1:p.Pro373Leu
XM_017000335.1:c.1112C>T	XP_016855824.1:p.Pro371Leu
XM_017000336.1:c.1118C>T	XP_016855825.1:p.Pro373Leu
NM_001854.4:c.965C>T MANE Select	NP_001845.3:p.Pro322Leu
NM_080630.4:c.897+670C>T	NP_542197.3:n.897+670C>T
NR_134980.2:n.1309C>T
NM_001190709.2:c.848C>T	NP_001177638.1:p.Pro283Leu
NM_080629.3:c.1001C>T	NP_542196.2:p.Pro334Leu