Canonical Allele Identifier: CA419197280

Gene: COL11A1

Linked Data

• MyVariant Identifiers: chr1:g.103427431T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102961875T>A , CM000663.2:g.102961875T>A	GRCh38
NC_000001.10:g.103427431T>A , CM000663.1:g.103427431T>A	GRCh37
NC_000001.9:g.103200019T>A	NCBI36
NG_008033.1:g.151622A>T
NG_008033.2:g.151622A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.3159A>T MANE Select	ENSP00000359114.3:p.Pro1053=
ENST00000353414.8:c.3042A>T	ENSP00000302551.6:p.Pro1014=
ENST00000358392.6:c.3195A>T	ENSP00000351163.2:p.Pro1065=
ENST00000370096.7:c.3159A>T	ENSP00000359114.3:p.Pro1053=
ENST00000465209.1:n.167A>T
ENST00000512756.5:c.2811A>T	ENSP00000426533.1:p.Pro937=
ENST00000635193.1:c.2493A>T
NM_001190709.1:c.3042A>T	NP_001177638.1:p.Pro1014=
NM_001854.3:c.3159A>T	NP_001845.3:p.Pro1053=
NM_080629.2:c.3195A>T	NP_542196.2:p.Pro1065=
NM_080630.3:c.2811A>T	NP_542197.3:p.Pro937=
XM_011540719.1:c.3159A>T	XP_011539021.1:p.Pro1053=
XM_011540720.1:c.1392A>T	XP_011539022.1:p.Pro464=
XM_011540721.1:c.747A>T	XP_011539023.1:p.Pro249=
NR_134980.1:n.3493A>T
XM_017000334.1:c.3312A>T	XP_016855823.1:p.Pro1104=
XM_017000335.1:c.3306A>T	XP_016855824.1:p.Pro1102=
XM_017000336.1:c.3312A>T	XP_016855825.1:p.Pro1104=
XM_017000337.1:c.1710A>T	XP_016855826.1:p.Pro570=
NM_001854.4:c.3159A>T MANE Select	NP_001845.3:p.Pro1053=
NM_080630.4:c.2811A>T	NP_542197.3:p.Pro937=
NR_134980.2:n.3519A>T
NM_001190709.2:c.3042A>T	NP_001177638.1:p.Pro1014=
NM_080629.3:c.3195A>T	NP_542196.2:p.Pro1065=