Canonical Allele Identifier: CA524903099

Gene: COL11A1

Linked Data

• dbSNP Id: rs1452855628
• gnomAD v2: 1-103474101-T-A
• gnomAD v4: 1-103008545-T-A
• MyVariant Identifiers: chr1:g.103474101T>A (hg19) ; chr1:g.103008545T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.103008545T>A , CM000663.2:g.103008545T>A	GRCh38
NC_000001.10:g.103474101T>A , CM000663.1:g.103474101T>A	GRCh37
NC_000001.9:g.103246689T>A	NCBI36
NG_008033.1:g.104952A>T
NG_008033.2:g.104952A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000370096.9:c.1630-29A>T MANE Select	ENSP00000359114.3:n.1630-29A>T
ENST00000461720.6:c.1783-29A>T	ENSP00000494909.1:n.1783-29A>T
ENST00000644186.1:c.1630-29A>T	ENSP00000493821.1:n.1630-29A>T
ENST00000645458.1:c.1630-29A>T	ENSP00000494179.1:n.1630-29A>T
ENST00000647280.1:c.1630-29A>T	ENSP00000494583.1:n.1630-29A>T
ENST00000353414.8:c.1513-29A>T	ENSP00000302551.6:n.1513-29A>T
ENST00000358392.6:c.1666-29A>T	ENSP00000351163.2:n.1666-29A>T
ENST00000370096.7:c.1630-29A>T	ENSP00000359114.3:n.1630-29A>T
ENST00000427239.5:c.1666-29A>T	ENSP00000408640.1:n.1666-29A>T
ENST00000512756.5:c.1282-29A>T	ENSP00000426533.1:n.1282-29A>T
ENST00000635193.1:c.948-29A>T
NM_001190709.1:c.1513-29A>T	NP_001177638.1:n.1513-29A>T
NM_001854.3:c.1630-29A>T	NP_001845.3:n.1630-29A>T
NM_080629.2:c.1666-29A>T	NP_542196.2:n.1666-29A>T
NM_080630.3:c.1282-29A>T	NP_542197.3:n.1282-29A>T
XM_011540719.1:c.1630-29A>T	XP_011539021.1:n.1630-29A>T
XM_011540720.1:c.-85+131A>T	XP_011539022.1:n.-85+131A>T
XM_011540721.1:c.-799-29A>T	XP_011539023.1:n.-799-29A>T
XR_946545.1:n.2028-29A>T
NR_134980.1:n.1948-29A>T
XM_017000334.1:c.1783-29A>T	XP_016855823.1:n.1783-29A>T
XM_017000335.1:c.1777-29A>T	XP_016855824.1:n.1777-29A>T
XM_017000336.1:c.1783-29A>T	XP_016855825.1:n.1783-29A>T
XM_017000337.1:c.181-29A>T	XP_016855826.1:n.181-29A>T
NM_001854.4:c.1630-29A>T MANE Select	NP_001845.3:n.1630-29A>T
NM_080630.4:c.1282-29A>T	NP_542197.3:n.1282-29A>T
NR_134980.2:n.1974-29A>T
NM_001190709.2:c.1513-29A>T	NP_001177638.1:n.1513-29A>T
NM_080629.3:c.1666-29A>T	NP_542196.2:n.1666-29A>T