Canonical Allele Identifier: CA973261

Gene: COL11A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102878174T>G , CM000663.2:g.102878174T>G	GRCh38
NC_000001.10:g.103343730T>G , CM000663.1:g.103343730T>G	GRCh37
NC_000001.9:g.103116318T>G	NCBI36
NG_008033.1:g.235323A>C
NG_008033.2:g.235323A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001854.4:c.5275-9A>C MANE Select	NP_001845.3:n.5275-9A>C
ENST00000370096.9:c.5275-9A>C MANE Select	ENSP00000359114.3:n.5275-9A>C
NM_001190709.1:c.5158-9A>C	NP_001177638.1:n.5158-9A>C
NM_001190709.2:c.5158-9A>C	NP_001177638.1:n.5158-9A>C
NM_001854.3:c.5275-9A>C	NP_001845.3:n.5275-9A>C
NM_080629.2:c.5311-9A>C	NP_542196.2:n.5311-9A>C
NM_080629.3:c.5311-9A>C	NP_542196.2:n.5311-9A>C
NM_080630.3:c.4927-9A>C	NP_542197.3:n.4927-9A>C
NM_080630.4:c.4927-9A>C	NP_542197.3:n.4927-9A>C
NR_134980.1:n.5609-9A>C
NR_134980.2:n.5635-9A>C
ENST00000353414.8:c.5158-9A>C	ENSP00000302551.6:n.5158-9A>C
ENST00000358392.6:c.5311-9A>C	ENSP00000351163.2:n.5311-9A>C
ENST00000370096.7:c.5275-9A>C	ENSP00000359114.3:n.5275-9A>C
ENST00000470170.1:n.337-9A>C
ENST00000512756.5:c.4927-9A>C	ENSP00000426533.1:n.4927-9A>C
ENST00000635193.1:c.4609-9A>C
ENST00000639098.1:n.648-9A>C
XM_011540720.1:c.3508-9A>C	XP_011539022.1:n.3508-9A>C
XM_011540721.1:c.2863-9A>C	XP_011539023.1:n.2863-9A>C
XM_017000334.1:c.5428-9A>C	XP_016855823.1:n.5428-9A>C
XM_017000335.1:c.5422-9A>C	XP_016855824.1:n.5422-9A>C
XM_017000337.1:c.3826-9A>C	XP_016855826.1:n.3826-9A>C