Canonical Allele Identifier: CA341175420

Gene: COL11A1

Linked Data

• MyVariant Identifiers: chr1:g.103474023G>C (hg19) ; chr1:g.103008467G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.103008467G>C , CM000663.2:g.103008467G>C	GRCh38
NC_000001.10:g.103474023G>C , CM000663.1:g.103474023G>C	GRCh37
NC_000001.9:g.103246611G>C	NCBI36
NG_008033.1:g.105030C>G
NG_008033.2:g.105030C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.1679C>G MANE Select	ENSP00000359114.3:p.Pro560Arg
ENST00000461720.6:c.1832C>G	ENSP00000494909.1:p.Pro611Arg
ENST00000644186.1:c.1679C>G	ENSP00000493821.1:p.Pro560Arg
ENST00000645458.1:c.1679C>G	ENSP00000494179.1:p.Pro560Arg
ENST00000647280.1:c.1679C>G	ENSP00000494583.1:p.Pro560Arg
ENST00000353414.8:c.1562C>G	ENSP00000302551.6:p.Pro521Arg
ENST00000358392.6:c.1715C>G	ENSP00000351163.2:p.Pro572Arg
ENST00000370096.7:c.1679C>G	ENSP00000359114.3:p.Pro560Arg
ENST00000461720.5:n.27C>G
ENST00000512756.5:c.1331C>G	ENSP00000426533.1:p.Pro444Arg
ENST00000635193.1:c.997C>G
NM_001190709.1:c.1562C>G	NP_001177638.1:p.Pro521Arg
NM_001854.3:c.1679C>G	NP_001845.3:p.Pro560Arg
NM_080629.2:c.1715C>G	NP_542196.2:p.Pro572Arg
NM_080630.3:c.1331C>G	NP_542197.3:p.Pro444Arg
XM_011540719.1:c.1679C>G	XP_011539021.1:p.Pro560Arg
XM_011540720.1:c.-85+209C>G	XP_011539022.1:n.-85+209C>G
XM_011540721.1:c.-750C>G	XP_011539023.1:n.-750C>G
XR_946545.1:n.2077C>G
NR_134980.1:n.1997C>G
XM_017000334.1:c.1832C>G	XP_016855823.1:p.Pro611Arg
XM_017000335.1:c.1826C>G	XP_016855824.1:p.Pro609Arg
XM_017000336.1:c.1832C>G	XP_016855825.1:p.Pro611Arg
XM_017000337.1:c.230C>G	XP_016855826.1:p.Pro77Arg
NM_001854.4:c.1679C>G MANE Select	NP_001845.3:p.Pro560Arg
NM_080630.4:c.1331C>G	NP_542197.3:p.Pro444Arg
NR_134980.2:n.2023C>G
NM_001190709.2:c.1562C>G	NP_001177638.1:p.Pro521Arg
NM_080629.3:c.1715C>G	NP_542196.2:p.Pro572Arg