Canonical Allele Identifier: CA10607206

Gene: COL11A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102877914G>A , CM000663.2:g.102877914G>A	GRCh38
NC_000001.10:g.103343470G>A , CM000663.1:g.103343470G>A	GRCh37
NC_000001.9:g.103116058G>A	NCBI36
NG_008033.1:g.235583C>T
NG_008033.2:g.235583C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001854.4:c.*105C>T MANE Select	NP_001845.3:n.*105C>T
ENST00000370096.9:c.*105C>T MANE Select	ENSP00000359114.3:n.*105C>T
NM_001190709.1:c.*105C>T	NP_001177638.1:n.*105C>T
NM_001190709.2:c.*105C>T	NP_001177638.1:n.*105C>T
NM_001854.3:c.*105C>T	NP_001845.3:n.*105C>T
NM_080629.2:c.*105C>T	NP_542196.2:n.*105C>T
NM_080629.3:c.*105C>T	NP_542196.2:n.*105C>T
NM_080630.3:c.*105C>T	NP_542197.3:n.*105C>T
NM_080630.4:c.*105C>T	NP_542197.3:n.*105C>T
NR_134980.1:n.5860C>T
NR_134980.2:n.5886C>T
ENST00000353414.8:c.*105C>T	ENSP00000302551.6:n.*105C>T
ENST00000358392.6:c.*105C>T	ENSP00000351163.2:n.*105C>T
ENST00000370096.7:c.*105C>T	ENSP00000359114.3:n.*105C>T
ENST00000470170.1:n.588C>T
ENST00000635193.1:c.4860C>T
ENST00000639098.1:n.899C>T
XM_011540720.1:c.*105C>T	XP_011539022.1:n.*105C>T
XM_011540721.1:c.*105C>T	XP_011539023.1:n.*105C>T
XM_017000334.1:c.*105C>T	XP_016855823.1:n.*105C>T
XM_017000335.1:c.*105C>T	XP_016855824.1:n.*105C>T
XM_017000337.1:c.*105C>T	XP_016855826.1:n.*105C>T