Canonical Allele Identifier: CA341171302

Gene: COL11A1

Linked Data

• MyVariant Identifiers: chr1:g.103412478G>T (hg19) ; chr1:g.102946922G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102946922G>T , CM000663.2:g.102946922G>T	GRCh38
NC_000001.10:g.103412478G>T , CM000663.1:g.103412478G>T	GRCh37
NC_000001.9:g.103185066G>T	NCBI36
NG_008033.1:g.166575C>A
NG_008033.2:g.166575C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.3203C>A MANE Select	ENSP00000359114.3:p.Ala1068Asp
ENST00000353414.8:c.3086C>A	ENSP00000302551.6:p.Ala1029Asp
ENST00000358392.6:c.3239C>A	ENSP00000351163.2:p.Ala1080Asp
ENST00000370096.7:c.3203C>A	ENSP00000359114.3:p.Ala1068Asp
ENST00000512756.5:c.2855C>A	ENSP00000426533.1:p.Ala952Asp
ENST00000635193.1:c.2537C>A
NM_001190709.1:c.3086C>A	NP_001177638.1:p.Ala1029Asp
NM_001854.3:c.3203C>A	NP_001845.3:p.Ala1068Asp
NM_080629.2:c.3239C>A	NP_542196.2:p.Ala1080Asp
NM_080630.3:c.2855C>A	NP_542197.3:p.Ala952Asp
XM_011540719.1:c.3203C>A	XP_011539021.1:p.Ala1068Asp
XM_011540720.1:c.1436C>A	XP_011539022.1:p.Ala479Asp
XM_011540721.1:c.791C>A	XP_011539023.1:p.Ala264Asp
NR_134980.1:n.3537C>A
XM_017000334.1:c.3356C>A	XP_016855823.1:p.Ala1119Asp
XM_017000335.1:c.3350C>A	XP_016855824.1:p.Ala1117Asp
XM_017000336.1:c.3356C>A	XP_016855825.1:p.Ala1119Asp
XM_017000337.1:c.1754C>A	XP_016855826.1:p.Ala585Asp
NM_001854.4:c.3203C>A MANE Select	NP_001845.3:p.Ala1068Asp
NM_080630.4:c.2855C>A	NP_542197.3:p.Ala952Asp
NR_134980.2:n.3563C>A
NM_001190709.2:c.3086C>A	NP_001177638.1:p.Ala1029Asp
NM_080629.3:c.3239C>A	NP_542196.2:p.Ala1080Asp