Canonical Allele Identifier: CA974129

Gene: COL11A1

Linked Data

• ClinVar Variation Id: 1991934
• ClinVar RCV Id: RCV002776443
• dbSNP Id: rs774043430
• ExAC: 1:103427436 G / A
• gnomAD v2: 1-103427436-G-A
• gnomAD v3: 1-102961880-G-A
• gnomAD v4: 1-102961880-G-A
• MyVariant Identifiers: chr1:g.103427436G>A (hg19) ; chr1:g.102961880G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102961880G>A , CM000663.2:g.102961880G>A	GRCh38
NC_000001.10:g.103427436G>A , CM000663.1:g.103427436G>A	GRCh37
NC_000001.9:g.103200024G>A	NCBI36
NG_008033.1:g.151617C>T
NG_008033.2:g.151617C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.3154C>T MANE Select	ENSP00000359114.3:p.Pro1052Ser
ENST00000353414.8:c.3037C>T	ENSP00000302551.6:p.Pro1013Ser
ENST00000358392.6:c.3190C>T	ENSP00000351163.2:p.Pro1064Ser
ENST00000370096.7:c.3154C>T	ENSP00000359114.3:p.Pro1052Ser
ENST00000465209.1:n.162C>T
ENST00000512756.5:c.2806C>T	ENSP00000426533.1:p.Pro936Ser
ENST00000635193.1:c.2488C>T
NM_001190709.1:c.3037C>T	NP_001177638.1:p.Pro1013Ser
NM_001854.3:c.3154C>T	NP_001845.3:p.Pro1052Ser
NM_080629.2:c.3190C>T	NP_542196.2:p.Pro1064Ser
NM_080630.3:c.2806C>T	NP_542197.3:p.Pro936Ser
XM_011540719.1:c.3154C>T	XP_011539021.1:p.Pro1052Ser
XM_011540720.1:c.1387C>T	XP_011539022.1:p.Pro463Ser
XM_011540721.1:c.742C>T	XP_011539023.1:p.Pro248Ser
NR_134980.1:n.3488C>T
XM_017000334.1:c.3307C>T	XP_016855823.1:p.Pro1103Ser
XM_017000335.1:c.3301C>T	XP_016855824.1:p.Pro1101Ser
XM_017000336.1:c.3307C>T	XP_016855825.1:p.Pro1103Ser
XM_017000337.1:c.1705C>T	XP_016855826.1:p.Pro569Ser
NM_001854.4:c.3154C>T MANE Select	NP_001845.3:p.Pro1052Ser
NM_080630.4:c.2806C>T	NP_542197.3:p.Pro936Ser
NR_134980.2:n.3514C>T
NM_001190709.2:c.3037C>T	NP_001177638.1:p.Pro1013Ser
NM_080629.3:c.3190C>T	NP_542196.2:p.Pro1064Ser