Canonical Allele Identifier: CA341171295

Gene: COL11A1

Linked Data

• dbSNP Id: rs1431696534
• gnomAD v3: 1-102946922-G-A
• gnomAD v4: 1-102946922-G-A
• MyVariant Identifiers: chr1:g.103412478G>A (hg19) ; chr1:g.102946922G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.3203C>T MANE Select	ENSP00000359114.3:p.Ala1068Val
ENST00000353414.8:c.3086C>T	ENSP00000302551.6:p.Ala1029Val
ENST00000358392.6:c.3239C>T	ENSP00000351163.2:p.Ala1080Val
ENST00000370096.7:c.3203C>T	ENSP00000359114.3:p.Ala1068Val
ENST00000512756.5:c.2855C>T	ENSP00000426533.1:p.Ala952Val
ENST00000635193.1:c.2537C>T
NM_001190709.1:c.3086C>T	NP_001177638.1:p.Ala1029Val
NM_001854.3:c.3203C>T	NP_001845.3:p.Ala1068Val
NM_080629.2:c.3239C>T	NP_542196.2:p.Ala1080Val
NM_080630.3:c.2855C>T	NP_542197.3:p.Ala952Val
XM_011540719.1:c.3203C>T	XP_011539021.1:p.Ala1068Val
XM_011540720.1:c.1436C>T	XP_011539022.1:p.Ala479Val
XM_011540721.1:c.791C>T	XP_011539023.1:p.Ala264Val
NR_134980.1:n.3537C>T
XM_017000334.1:c.3356C>T	XP_016855823.1:p.Ala1119Val
XM_017000335.1:c.3350C>T	XP_016855824.1:p.Ala1117Val
XM_017000336.1:c.3356C>T	XP_016855825.1:p.Ala1119Val
XM_017000337.1:c.1754C>T	XP_016855826.1:p.Ala585Val
NM_001854.4:c.3203C>T MANE Select	NP_001845.3:p.Ala1068Val
NM_080630.4:c.2855C>T	NP_542197.3:p.Ala952Val
NR_134980.2:n.3563C>T
NM_001190709.2:c.3086C>T	NP_001177638.1:p.Ala1029Val
NM_080629.3:c.3239C>T	NP_542196.2:p.Ala1080Val