Canonical Allele Identifier: CA974048

Gene: COL11A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102940314A>C , CM000663.2:g.102940314A>C	GRCh38
NC_000001.10:g.103405870A>C , CM000663.1:g.103405870A>C	GRCh37
NC_000001.9:g.103178458A>C	NCBI36
NG_008033.1:g.173183T>G
NG_008033.2:g.173183T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001854.4:c.3384+13T>G MANE Select	NP_001845.3:n.3384+13T>G
ENST00000370096.9:c.3384+13T>G MANE Select	ENSP00000359114.3:n.3384+13T>G
NM_001190709.1:c.3267+13T>G	NP_001177638.1:n.3267+13T>G
NM_001190709.2:c.3267+13T>G	NP_001177638.1:n.3267+13T>G
NM_001854.3:c.3384+13T>G	NP_001845.3:n.3384+13T>G
NM_080629.2:c.3420+13T>G	NP_542196.2:n.3420+13T>G
NM_080629.3:c.3420+13T>G	NP_542196.2:n.3420+13T>G
NM_080630.3:c.3036+13T>G	NP_542197.3:n.3036+13T>G
NM_080630.4:c.3036+13T>G	NP_542197.3:n.3036+13T>G
NR_134980.1:n.3718+13T>G
NR_134980.2:n.3744+13T>G
ENST00000353414.8:c.3267+13T>G	ENSP00000302551.6:n.3267+13T>G
ENST00000358392.6:c.3420+13T>G	ENSP00000351163.2:n.3420+13T>G
ENST00000370096.7:c.3384+13T>G	ENSP00000359114.3:n.3384+13T>G
ENST00000512756.5:c.3036+13T>G	ENSP00000426533.1:n.3036+13T>G
ENST00000635193.1:c.2718+13T>G
XM_011540719.1:c.3384+13T>G	XP_011539021.1:n.3384+13T>G
XM_011540720.1:c.1617+13T>G	XP_011539022.1:n.1617+13T>G
XM_011540721.1:c.972+13T>G	XP_011539023.1:n.972+13T>G
XM_017000334.1:c.3537+13T>G	XP_016855823.1:n.3537+13T>G
XM_017000335.1:c.3531+13T>G	XP_016855824.1:n.3531+13T>G
XM_017000336.1:c.3537+13T>G	XP_016855825.1:n.3537+13T>G
XM_017000337.1:c.1935+13T>G	XP_016855826.1:n.1935+13T>G