Canonical Allele Identifier: CA419199946

Gene: COL11A1

Linked Data

• gnomAD v4: 1-102978732-G-C
• MyVariant Identifiers: chr1:g.103444288G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102978732G>C , CM000663.2:g.102978732G>C	GRCh38
NC_000001.10:g.103444288G>C , CM000663.1:g.103444288G>C	GRCh37
NC_000001.9:g.103216876G>C	NCBI36
NG_008033.1:g.134765C>G
NG_008033.2:g.134765C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.2730C>G MANE Select	ENSP00000359114.3:p.Gly910=
ENST00000353414.8:c.2613C>G	ENSP00000302551.6:p.Gly871=
ENST00000358392.6:c.2766C>G	ENSP00000351163.2:p.Gly922=
ENST00000370096.7:c.2730C>G	ENSP00000359114.3:p.Gly910=
ENST00000512756.5:c.2382C>G	ENSP00000426533.1:p.Gly794=
ENST00000635193.1:c.2064C>G
NM_001190709.1:c.2613C>G	NP_001177638.1:p.Gly871=
NM_001854.3:c.2730C>G	NP_001845.3:p.Gly910=
NM_080629.2:c.2766C>G	NP_542196.2:p.Gly922=
NM_080630.3:c.2382C>G	NP_542197.3:p.Gly794=
XM_011540719.1:c.2730C>G	XP_011539021.1:p.Gly910=
XM_011540720.1:c.963C>G	XP_011539022.1:p.Gly321=
XM_011540721.1:c.318C>G	XP_011539023.1:p.Gly106=
XR_946545.1:n.3144C>G
NR_134980.1:n.3064C>G
XM_017000334.1:c.2883C>G	XP_016855823.1:p.Gly961=
XM_017000335.1:c.2877C>G	XP_016855824.1:p.Gly959=
XM_017000336.1:c.2883C>G	XP_016855825.1:p.Gly961=
XM_017000337.1:c.1281C>G	XP_016855826.1:p.Gly427=
NM_001854.4:c.2730C>G MANE Select	NP_001845.3:p.Gly910=
NM_080630.4:c.2382C>G	NP_542197.3:p.Gly794=
NR_134980.2:n.3090C>G
NM_001190709.2:c.2613C>G	NP_001177638.1:p.Gly871=
NM_080629.3:c.2766C>G	NP_542196.2:p.Gly922=