Canonical Allele Identifier: CA419199990

Gene: COL11A1

Linked Data

• MyVariant Identifiers: chr1:g.103444300T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102978744T>A , CM000663.2:g.102978744T>A	GRCh38
NC_000001.10:g.103444300T>A , CM000663.1:g.103444300T>A	GRCh37
NC_000001.9:g.103216888T>A	NCBI36
NG_008033.1:g.134753A>T
NG_008033.2:g.134753A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.2718A>T MANE Select	ENSP00000359114.3:p.Ser906=
ENST00000353414.8:c.2601A>T	ENSP00000302551.6:p.Ser867=
ENST00000358392.6:c.2754A>T	ENSP00000351163.2:p.Ser918=
ENST00000370096.7:c.2718A>T	ENSP00000359114.3:p.Ser906=
ENST00000512756.5:c.2370A>T	ENSP00000426533.1:p.Ser790=
ENST00000635193.1:c.2052A>T
NM_001190709.1:c.2601A>T	NP_001177638.1:p.Ser867=
NM_001854.3:c.2718A>T	NP_001845.3:p.Ser906=
NM_080629.2:c.2754A>T	NP_542196.2:p.Ser918=
NM_080630.3:c.2370A>T	NP_542197.3:p.Ser790=
XM_011540719.1:c.2718A>T	XP_011539021.1:p.Ser906=
XM_011540720.1:c.951A>T	XP_011539022.1:p.Ser317=
XM_011540721.1:c.306A>T	XP_011539023.1:p.Ser102=
XR_946545.1:n.3132A>T
NR_134980.1:n.3052A>T
XM_017000334.1:c.2871A>T	XP_016855823.1:p.Ser957=
XM_017000335.1:c.2865A>T	XP_016855824.1:p.Ser955=
XM_017000336.1:c.2871A>T	XP_016855825.1:p.Ser957=
XM_017000337.1:c.1269A>T	XP_016855826.1:p.Ser423=
NM_001854.4:c.2718A>T MANE Select	NP_001845.3:p.Ser906=
NM_080630.4:c.2370A>T	NP_542197.3:p.Ser790=
NR_134980.2:n.3078A>T
NM_001190709.2:c.2601A>T	NP_001177638.1:p.Ser867=
NM_080629.3:c.2754A>T	NP_542196.2:p.Ser918=