Canonical Allele Identifier: CA341175414

Gene: COL11A1

Linked Data

• MyVariant Identifiers: chr1:g.103474020T>A (hg19) ; chr1:g.103008464T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.103008464T>A , CM000663.2:g.103008464T>A	GRCh38
NC_000001.10:g.103474020T>A , CM000663.1:g.103474020T>A	GRCh37
NC_000001.9:g.103246608T>A	NCBI36
NG_008033.1:g.105033A>T
NG_008033.2:g.105033A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.1682A>T MANE Select	ENSP00000359114.3:p.Gln561Leu
ENST00000461720.6:c.1835A>T	ENSP00000494909.1:p.Gln612Leu
ENST00000644186.1:c.1682A>T	ENSP00000493821.1:p.Gln561Leu
ENST00000645458.1:c.1682A>T	ENSP00000494179.1:p.Gln561Leu
ENST00000647280.1:c.1682A>T	ENSP00000494583.1:p.Gln561Leu
ENST00000353414.8:c.1565A>T	ENSP00000302551.6:p.Gln522Leu
ENST00000358392.6:c.1718A>T	ENSP00000351163.2:p.Gln573Leu
ENST00000370096.7:c.1682A>T	ENSP00000359114.3:p.Gln561Leu
ENST00000461720.5:n.30A>T
ENST00000512756.5:c.1334A>T	ENSP00000426533.1:p.Gln445Leu
ENST00000635193.1:c.1000A>T
NM_001190709.1:c.1565A>T	NP_001177638.1:p.Gln522Leu
NM_001854.3:c.1682A>T	NP_001845.3:p.Gln561Leu
NM_080629.2:c.1718A>T	NP_542196.2:p.Gln573Leu
NM_080630.3:c.1334A>T	NP_542197.3:p.Gln445Leu
XM_011540719.1:c.1682A>T	XP_011539021.1:p.Gln561Leu
XM_011540720.1:c.-85+212A>T	XP_011539022.1:n.-85+212A>T
XM_011540721.1:c.-747A>T	XP_011539023.1:n.-747A>T
XR_946545.1:n.2080A>T
NR_134980.1:n.2000A>T
XM_017000334.1:c.1835A>T	XP_016855823.1:p.Gln612Leu
XM_017000335.1:c.1829A>T	XP_016855824.1:p.Gln610Leu
XM_017000336.1:c.1835A>T	XP_016855825.1:p.Gln612Leu
XM_017000337.1:c.233A>T	XP_016855826.1:p.Gln78Leu
NM_001854.4:c.1682A>T MANE Select	NP_001845.3:p.Gln561Leu
NM_080630.4:c.1334A>T	NP_542197.3:p.Gln445Leu
NR_134980.2:n.2026A>T
NM_001190709.2:c.1565A>T	NP_001177638.1:p.Gln522Leu
NM_080629.3:c.1718A>T	NP_542196.2:p.Gln573Leu