Canonical Allele Identifier: CA341163192

Gene: COL11A1

Linked Data

• dbSNP Id: rs1662763726
• gnomAD v3: 1-102978865-G-C
• gnomAD v4: 1-102978865-G-C
• MyVariant Identifiers: chr1:g.103444421G>C (hg19) ; chr1:g.102978865G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102978865G>C , CM000663.2:g.102978865G>C	GRCh38
NC_000001.10:g.103444421G>C , CM000663.1:g.103444421G>C	GRCh37
NC_000001.9:g.103217009G>C	NCBI36
NG_008033.1:g.134632C>G
NG_008033.2:g.134632C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.2704C>G MANE Select	ENSP00000359114.3:p.Pro902Ala
ENST00000353414.8:c.2587C>G	ENSP00000302551.6:p.Pro863Ala
ENST00000358392.6:c.2740C>G	ENSP00000351163.2:p.Pro914Ala
ENST00000370096.7:c.2704C>G	ENSP00000359114.3:p.Pro902Ala
ENST00000512756.5:c.2356C>G	ENSP00000426533.1:p.Pro786Ala
ENST00000635193.1:c.2038C>G
NM_001190709.1:c.2587C>G	NP_001177638.1:p.Pro863Ala
NM_001854.3:c.2704C>G	NP_001845.3:p.Pro902Ala
NM_080629.2:c.2740C>G	NP_542196.2:p.Pro914Ala
NM_080630.3:c.2356C>G	NP_542197.3:p.Pro786Ala
XM_011540719.1:c.2704C>G	XP_011539021.1:p.Pro902Ala
XM_011540720.1:c.937C>G	XP_011539022.1:p.Pro313Ala
XM_011540721.1:c.292C>G	XP_011539023.1:p.Pro98Ala
XR_946545.1:n.3118C>G
NR_134980.1:n.3038C>G
XM_017000334.1:c.2857C>G	XP_016855823.1:p.Pro953Ala
XM_017000335.1:c.2851C>G	XP_016855824.1:p.Pro951Ala
XM_017000336.1:c.2857C>G	XP_016855825.1:p.Pro953Ala
XM_017000337.1:c.1255C>G	XP_016855826.1:p.Pro419Ala
NM_001854.4:c.2704C>G MANE Select	NP_001845.3:p.Pro902Ala
NM_080630.4:c.2356C>G	NP_542197.3:p.Pro786Ala
NR_134980.2:n.3064C>G
NM_001190709.2:c.2587C>G	NP_001177638.1:p.Pro863Ala
NM_080629.3:c.2740C>G	NP_542196.2:p.Pro914Ala