Canonical Allele Identifier: CA419205548

Gene: COL11A1

Linked Data

• gnomAD v4: 1-102946933-T-A
• COSMIC: COSM6290364 ; COSM6290365
• MyVariant Identifiers: chr1:g.103412489T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102946933T>A , CM000663.2:g.102946933T>A	GRCh38
NC_000001.10:g.103412489T>A , CM000663.1:g.103412489T>A	GRCh37
NC_000001.9:g.103185077T>A	NCBI36
NG_008033.1:g.166564A>T
NG_008033.2:g.166564A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.3192A>T MANE Select	ENSP00000359114.3:p.Ser1064=
ENST00000353414.8:c.3075A>T	ENSP00000302551.6:p.Ser1025=
ENST00000358392.6:c.3228A>T	ENSP00000351163.2:p.Ser1076=
ENST00000370096.7:c.3192A>T	ENSP00000359114.3:p.Ser1064=
ENST00000512756.5:c.2844A>T	ENSP00000426533.1:p.Ser948=
ENST00000635193.1:c.2526A>T
NM_001190709.1:c.3075A>T	NP_001177638.1:p.Ser1025=
NM_001854.3:c.3192A>T	NP_001845.3:p.Ser1064=
NM_080629.2:c.3228A>T	NP_542196.2:p.Ser1076=
NM_080630.3:c.2844A>T	NP_542197.3:p.Ser948=
XM_011540719.1:c.3192A>T	XP_011539021.1:p.Ser1064=
XM_011540720.1:c.1425A>T	XP_011539022.1:p.Ser475=
XM_011540721.1:c.780A>T	XP_011539023.1:p.Ser260=
NR_134980.1:n.3526A>T
XM_017000334.1:c.3345A>T	XP_016855823.1:p.Ser1115=
XM_017000335.1:c.3339A>T	XP_016855824.1:p.Ser1113=
XM_017000336.1:c.3345A>T	XP_016855825.1:p.Ser1115=
XM_017000337.1:c.1743A>T	XP_016855826.1:p.Ser581=
NM_001854.4:c.3192A>T MANE Select	NP_001845.3:p.Ser1064=
NM_080630.4:c.2844A>T	NP_542197.3:p.Ser948=
NR_134980.2:n.3552A>T
NM_001190709.2:c.3075A>T	NP_001177638.1:p.Ser1025=
NM_080629.3:c.3228A>T	NP_542196.2:p.Ser1076=