Canonical Allele Identifier: CA341167175

Gene: COL11A1

Linked Data

• MyVariant Identifiers: chr1:g.103455121C>A (hg19) ; chr1:g.102989565C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102989565C>A , CM000663.2:g.102989565C>A	GRCh38
NC_000001.10:g.103455121C>A , CM000663.1:g.103455121C>A	GRCh37
NC_000001.9:g.103227709C>A	NCBI36
NG_008033.1:g.123932G>T
NG_008033.2:g.123932G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.2347G>T MANE Select	ENSP00000359114.3:p.Asp783Tyr
ENST00000353414.8:c.2230G>T	ENSP00000302551.6:p.Asp744Tyr
ENST00000358392.6:c.2383G>T	ENSP00000351163.2:p.Asp795Tyr
ENST00000370096.7:c.2347G>T	ENSP00000359114.3:p.Asp783Tyr
ENST00000512756.5:c.1999G>T	ENSP00000426533.1:p.Asp667Tyr
ENST00000635193.1:c.1665G>T
NM_001190709.1:c.2230G>T	NP_001177638.1:p.Asp744Tyr
NM_001854.3:c.2347G>T	NP_001845.3:p.Asp783Tyr
NM_080629.2:c.2383G>T	NP_542196.2:p.Asp795Tyr
NM_080630.3:c.1999G>T	NP_542197.3:p.Asp667Tyr
XM_011540719.1:c.2347G>T	XP_011539021.1:p.Asp783Tyr
XM_011540720.1:c.580G>T	XP_011539022.1:p.Asp194Tyr
XM_011540721.1:c.-82G>T	XP_011539023.1:n.-82G>T
XR_946545.1:n.2745G>T
NR_134980.1:n.2665G>T
XM_017000334.1:c.2500G>T	XP_016855823.1:p.Asp834Tyr
XM_017000335.1:c.2494G>T	XP_016855824.1:p.Asp832Tyr
XM_017000336.1:c.2500G>T	XP_016855825.1:p.Asp834Tyr
XM_017000337.1:c.898G>T	XP_016855826.1:p.Asp300Tyr
NM_001854.4:c.2347G>T MANE Select	NP_001845.3:p.Asp783Tyr
NM_080630.4:c.1999G>T	NP_542197.3:p.Asp667Tyr
NR_134980.2:n.2691G>T
NM_001190709.2:c.2230G>T	NP_001177638.1:p.Asp744Tyr
NM_080629.3:c.2383G>T	NP_542196.2:p.Asp795Tyr