Canonical Allele Identifier: CA212992

Gene: COL11A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102888582A>G , CM000663.2:g.102888582A>G	GRCh38
NC_000001.10:g.103354138A>G , CM000663.1:g.103354138A>G	GRCh37
NC_000001.9:g.103126726A>G	NCBI36
NG_008033.1:g.224915T>C
NG_008033.2:g.224915T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001854.4:c.4603T>C MANE Select	NP_001845.3:p.Ser1535Pro
ENST00000370096.9:c.4603T>C MANE Select	ENSP00000359114.3:p.Ser1535Pro
NM_001190709.1:c.4486T>C	NP_001177638.1:p.Ser1496Pro
NM_001190709.2:c.4486T>C	NP_001177638.1:p.Ser1496Pro
NM_001854.3:c.4603T>C	NP_001845.3:p.Ser1535Pro
NM_080629.2:c.4639T>C	NP_542196.2:p.Ser1547Pro
NM_080629.3:c.4639T>C	NP_542196.2:p.Ser1547Pro
NM_080630.3:c.4255T>C	NP_542197.3:p.Ser1419Pro
NM_080630.4:c.4255T>C	NP_542197.3:p.Ser1419Pro
NR_134980.1:n.4937T>C
NR_134980.2:n.4963T>C
ENST00000353414.8:c.4486T>C	ENSP00000302551.6:p.Ser1496Pro
ENST00000358392.6:c.4639T>C	ENSP00000351163.2:p.Ser1547Pro
ENST00000370096.7:c.4603T>C	ENSP00000359114.3:p.Ser1535Pro
ENST00000512756.5:c.4255T>C	ENSP00000426533.1:p.Ser1419Pro
ENST00000635193.1:c.3937T>C
XM_011540720.1:c.2836T>C	XP_011539022.1:p.Ser946Pro
XM_011540721.1:c.2191T>C	XP_011539023.1:p.Ser731Pro
XM_017000334.1:c.4756T>C	XP_016855823.1:p.Ser1586Pro
XM_017000335.1:c.4750T>C	XP_016855824.1:p.Ser1584Pro
XM_017000337.1:c.3154T>C	XP_016855826.1:p.Ser1052Pro