Canonical Allele Identifier: CA341211122

Gene: COL11A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102879865A>G , CM000663.2:g.102879865A>G	GRCh38
NC_000001.10:g.103345421A>G , CM000663.1:g.103345421A>G	GRCh37
NC_000001.9:g.103118009A>G	NCBI36
NG_008033.1:g.233632T>C
NG_008033.2:g.233632T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001854.4:c.5092T>C MANE Select	NP_001845.3:p.Phe1698Leu
ENST00000370096.9:c.5092T>C MANE Select	ENSP00000359114.3:p.Phe1698Leu
NM_001190709.1:c.4975T>C	NP_001177638.1:p.Phe1659Leu
NM_001190709.2:c.4975T>C	NP_001177638.1:p.Phe1659Leu
NM_001854.3:c.5092T>C	NP_001845.3:p.Phe1698Leu
NM_080629.2:c.5128T>C	NP_542196.2:p.Phe1710Leu
NM_080629.3:c.5128T>C	NP_542196.2:p.Phe1710Leu
NM_080630.3:c.4744T>C	NP_542197.3:p.Phe1582Leu
NM_080630.4:c.4744T>C	NP_542197.3:p.Phe1582Leu
NR_134980.1:n.5426T>C
NR_134980.2:n.5452T>C
ENST00000353414.8:c.4975T>C	ENSP00000302551.6:p.Phe1659Leu
ENST00000358392.6:c.5128T>C	ENSP00000351163.2:p.Phe1710Leu
ENST00000370096.7:c.5092T>C	ENSP00000359114.3:p.Phe1698Leu
ENST00000470170.1:n.154T>C
ENST00000512756.5:c.4744T>C	ENSP00000426533.1:p.Phe1582Leu
ENST00000635193.1:c.4426T>C
ENST00000639098.1:n.465T>C
XM_011540720.1:c.3325T>C	XP_011539022.1:p.Phe1109Leu
XM_011540721.1:c.2680T>C	XP_011539023.1:p.Phe894Leu
XM_017000334.1:c.5245T>C	XP_016855823.1:p.Phe1749Leu
XM_017000335.1:c.5239T>C	XP_016855824.1:p.Phe1747Leu
XM_017000337.1:c.3643T>C	XP_016855826.1:p.Phe1215Leu