Canonical Allele Identifier: CA524903094

Gene: COL11A1

Linked Data

• dbSNP Id: rs759189134
• gnomAD v2: 1-103473990-G-A
• gnomAD v4: 1-103008434-G-A
• MyVariant Identifiers: chr1:g.103473990G>A (hg19) ; chr1:g.103008434G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.103008434G>A , CM000663.2:g.103008434G>A	GRCh38
NC_000001.10:g.103473990G>A , CM000663.1:g.103473990G>A	GRCh37
NC_000001.9:g.103246578G>A	NCBI36
NG_008033.1:g.105063C>T
NG_008033.2:g.105063C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000370096.9:c.1683+29C>T MANE Select	ENSP00000359114.3:n.1683+29C>T
ENST00000461720.6:c.1836+29C>T	ENSP00000494909.1:n.1836+29C>T
ENST00000644186.1:c.1683+29C>T	ENSP00000493821.1:n.1683+29C>T
ENST00000645458.1:c.1683+29C>T	ENSP00000494179.1:n.1683+29C>T
ENST00000647280.1:c.1683+29C>T	ENSP00000494583.1:n.1683+29C>T
ENST00000353414.8:c.1566+29C>T	ENSP00000302551.6:n.1566+29C>T
ENST00000358392.6:c.1719+29C>T	ENSP00000351163.2:n.1719+29C>T
ENST00000370096.7:c.1683+29C>T	ENSP00000359114.3:n.1683+29C>T
ENST00000461720.5:n.31+29C>T
ENST00000512756.5:c.1335+29C>T	ENSP00000426533.1:n.1335+29C>T
ENST00000635193.1:c.1001+29C>T
NM_001190709.1:c.1566+29C>T	NP_001177638.1:n.1566+29C>T
NM_001854.3:c.1683+29C>T	NP_001845.3:n.1683+29C>T
NM_080629.2:c.1719+29C>T	NP_542196.2:n.1719+29C>T
NM_080630.3:c.1335+29C>T	NP_542197.3:n.1335+29C>T
XM_011540719.1:c.1683+29C>T	XP_011539021.1:n.1683+29C>T
XM_011540720.1:c.-85+242C>T	XP_011539022.1:n.-85+242C>T
XM_011540721.1:c.-746+29C>T	XP_011539023.1:n.-746+29C>T
XR_946545.1:n.2081+29C>T
NR_134980.1:n.2001+29C>T
XM_017000334.1:c.1836+29C>T	XP_016855823.1:n.1836+29C>T
XM_017000335.1:c.1830+29C>T	XP_016855824.1:n.1830+29C>T
XM_017000336.1:c.1836+29C>T	XP_016855825.1:n.1836+29C>T
XM_017000337.1:c.234+29C>T	XP_016855826.1:n.234+29C>T
NM_001854.4:c.1683+29C>T MANE Select	NP_001845.3:n.1683+29C>T
NM_080630.4:c.1335+29C>T	NP_542197.3:n.1335+29C>T
NR_134980.2:n.2027+29C>T
NM_001190709.2:c.1566+29C>T	NP_001177638.1:n.1566+29C>T
NM_080629.3:c.1719+29C>T	NP_542196.2:n.1719+29C>T