Canonical Allele Identifier: CA419197254

Gene: COL11A1

Linked Data

• MyVariant Identifiers: chr1:g.103427422A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102961866A>G , CM000663.2:g.102961866A>G	GRCh38
NC_000001.10:g.103427422A>G , CM000663.1:g.103427422A>G	GRCh37
NC_000001.9:g.103200010A>G	NCBI36
NG_008033.1:g.151631T>C
NG_008033.2:g.151631T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.3168T>C MANE Select	ENSP00000359114.3:p.Val1056=
ENST00000353414.8:c.3051T>C	ENSP00000302551.6:p.Val1017=
ENST00000358392.6:c.3204T>C	ENSP00000351163.2:p.Val1068=
ENST00000370096.7:c.3168T>C	ENSP00000359114.3:p.Val1056=
ENST00000465209.1:n.176T>C
ENST00000512756.5:c.2820T>C	ENSP00000426533.1:p.Val940=
ENST00000635193.1:c.2502T>C
NM_001190709.1:c.3051T>C	NP_001177638.1:p.Val1017=
NM_001854.3:c.3168T>C	NP_001845.3:p.Val1056=
NM_080629.2:c.3204T>C	NP_542196.2:p.Val1068=
NM_080630.3:c.2820T>C	NP_542197.3:p.Val940=
XM_011540719.1:c.3168T>C	XP_011539021.1:p.Val1056=
XM_011540720.1:c.1401T>C	XP_011539022.1:p.Val467=
XM_011540721.1:c.756T>C	XP_011539023.1:p.Val252=
NR_134980.1:n.3502T>C
XM_017000334.1:c.3321T>C	XP_016855823.1:p.Val1107=
XM_017000335.1:c.3315T>C	XP_016855824.1:p.Val1105=
XM_017000336.1:c.3321T>C	XP_016855825.1:p.Val1107=
XM_017000337.1:c.1719T>C	XP_016855826.1:p.Val573=
NM_001854.4:c.3168T>C MANE Select	NP_001845.3:p.Val1056=
NM_080630.4:c.2820T>C	NP_542197.3:p.Val940=
NR_134980.2:n.3528T>C
NM_001190709.2:c.3051T>C	NP_001177638.1:p.Val1017=
NM_080629.3:c.3204T>C	NP_542196.2:p.Val1068=