Canonical Allele Identifier: CA341162845

Gene: COL11A1

Linked Data

• gnomAD v4: 1-102978709-C-T
• MyVariant Identifiers: chr1:g.103444265C>T (hg19) ; chr1:g.102978709C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102978709C>T , CM000663.2:g.102978709C>T	GRCh38
NC_000001.10:g.103444265C>T , CM000663.1:g.103444265C>T	GRCh37
NC_000001.9:g.103216853C>T	NCBI36
NG_008033.1:g.134788G>A
NG_008033.2:g.134788G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000370096.9:c.2753G>A MANE Select	ENSP00000359114.3:p.Arg918Lys
ENST00000353414.8:c.2636G>A	ENSP00000302551.6:p.Arg879Lys
ENST00000358392.6:c.2789G>A	ENSP00000351163.2:p.Arg930Lys
ENST00000370096.7:c.2753G>A	ENSP00000359114.3:p.Arg918Lys
ENST00000512756.5:c.2405G>A	ENSP00000426533.1:p.Arg802Lys
ENST00000635193.1:c.2087G>A
NM_001190709.1:c.2636G>A	NP_001177638.1:p.Arg879Lys
NM_001854.3:c.2753G>A	NP_001845.3:p.Arg918Lys
NM_080629.2:c.2789G>A	NP_542196.2:p.Arg930Lys
NM_080630.3:c.2405G>A	NP_542197.3:p.Arg802Lys
XM_011540719.1:c.2753G>A	XP_011539021.1:p.Arg918Lys
XM_011540720.1:c.986G>A	XP_011539022.1:p.Arg329Lys
XM_011540721.1:c.341G>A	XP_011539023.1:p.Arg114Lys
XR_946545.1:n.3167G>A
NR_134980.1:n.3087G>A
XM_017000334.1:c.2906G>A	XP_016855823.1:p.Arg969Lys
XM_017000335.1:c.2900G>A	XP_016855824.1:p.Arg967Lys
XM_017000336.1:c.2906G>A	XP_016855825.1:p.Arg969Lys
XM_017000337.1:c.1304G>A	XP_016855826.1:p.Arg435Lys
NM_001854.4:c.2753G>A MANE Select	NP_001845.3:p.Arg918Lys
NM_080630.4:c.2405G>A	NP_542197.3:p.Arg802Lys
NR_134980.2:n.3113G>A
NM_001190709.2:c.2636G>A	NP_001177638.1:p.Arg879Lys
NM_080629.3:c.2789G>A	NP_542196.2:p.Arg930Lys