Canonical Allele Identifier: CA974887

Gene: COL11A1

Linked Data

• ClinVar Variation Id: 2663049
• ClinVar RCV Id: RCV003442237
• dbSNP Id: rs754241471
• ExAC: 1:103474024 G / C
• gnomAD v2: 1-103474024-G-C
• gnomAD v4: 1-103008468-G-C
• MyVariant Identifiers: chr1:g.103474024G>C (hg19) ; chr1:g.103008468G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.103008468G>C , CM000663.2:g.103008468G>C	GRCh38
NC_000001.10:g.103474024G>C , CM000663.1:g.103474024G>C	GRCh37
NC_000001.9:g.103246612G>C	NCBI36
NG_008033.1:g.105029C>G
NG_008033.2:g.105029C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.1678C>G MANE Select	ENSP00000359114.3:p.Pro560Ala
ENST00000461720.6:c.1831C>G	ENSP00000494909.1:p.Pro611Ala
ENST00000644186.1:c.1678C>G	ENSP00000493821.1:p.Pro560Ala
ENST00000645458.1:c.1678C>G	ENSP00000494179.1:p.Pro560Ala
ENST00000647280.1:c.1678C>G	ENSP00000494583.1:p.Pro560Ala
ENST00000353414.8:c.1561C>G	ENSP00000302551.6:p.Pro521Ala
ENST00000358392.6:c.1714C>G	ENSP00000351163.2:p.Pro572Ala
ENST00000370096.7:c.1678C>G	ENSP00000359114.3:p.Pro560Ala
ENST00000461720.5:n.26C>G
ENST00000512756.5:c.1330C>G	ENSP00000426533.1:p.Pro444Ala
ENST00000635193.1:c.996C>G
NM_001190709.1:c.1561C>G	NP_001177638.1:p.Pro521Ala
NM_001854.3:c.1678C>G	NP_001845.3:p.Pro560Ala
NM_080629.2:c.1714C>G	NP_542196.2:p.Pro572Ala
NM_080630.3:c.1330C>G	NP_542197.3:p.Pro444Ala
XM_011540719.1:c.1678C>G	XP_011539021.1:p.Pro560Ala
XM_011540720.1:c.-85+208C>G	XP_011539022.1:n.-85+208C>G
XM_011540721.1:c.-751C>G	XP_011539023.1:n.-751C>G
XR_946545.1:n.2076C>G
NR_134980.1:n.1996C>G
XM_017000334.1:c.1831C>G	XP_016855823.1:p.Pro611Ala
XM_017000335.1:c.1825C>G	XP_016855824.1:p.Pro609Ala
XM_017000336.1:c.1831C>G	XP_016855825.1:p.Pro611Ala
XM_017000337.1:c.229C>G	XP_016855826.1:p.Pro77Ala
NM_001854.4:c.1678C>G MANE Select	NP_001845.3:p.Pro560Ala
NM_080630.4:c.1330C>G	NP_542197.3:p.Pro444Ala
NR_134980.2:n.2022C>G
NM_001190709.2:c.1561C>G	NP_001177638.1:p.Pro521Ala
NM_080629.3:c.1714C>G	NP_542196.2:p.Pro572Ala