Canonical Allele Identifier: CA419207892

Gene: COL11A1

Linked Data

• dbSNP Id: rs1291975517
• gnomAD v2: 1-103474064-A-T
• gnomAD v4: 1-103008508-A-T
• MyVariant Identifiers: chr1:g.103474064A>T (hg19) ; chr1:g.103008508A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.103008508A>T , CM000663.2:g.103008508A>T	GRCh38
NC_000001.10:g.103474064A>T , CM000663.1:g.103474064A>T	GRCh37
NC_000001.9:g.103246652A>T	NCBI36
NG_008033.1:g.104989T>A
NG_008033.2:g.104989T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.1638T>A MANE Select	ENSP00000359114.3:p.Pro546=
ENST00000461720.6:c.1791T>A	ENSP00000494909.1:p.Pro597=
ENST00000644186.1:c.1638T>A	ENSP00000493821.1:p.Pro546=
ENST00000645458.1:c.1638T>A	ENSP00000494179.1:p.Pro546=
ENST00000647280.1:c.1638T>A	ENSP00000494583.1:p.Pro546=
ENST00000353414.8:c.1521T>A	ENSP00000302551.6:p.Pro507=
ENST00000358392.6:c.1674T>A	ENSP00000351163.2:p.Pro558=
ENST00000370096.7:c.1638T>A	ENSP00000359114.3:p.Pro546=
ENST00000427239.5:c.1674T>A	ENSP00000408640.1:p.Pro558=
ENST00000512756.5:c.1290T>A	ENSP00000426533.1:p.Pro430=
ENST00000635193.1:c.956T>A
NM_001190709.1:c.1521T>A	NP_001177638.1:p.Pro507=
NM_001854.3:c.1638T>A	NP_001845.3:p.Pro546=
NM_080629.2:c.1674T>A	NP_542196.2:p.Pro558=
NM_080630.3:c.1290T>A	NP_542197.3:p.Pro430=
XM_011540719.1:c.1638T>A	XP_011539021.1:p.Pro546=
XM_011540720.1:c.-85+168T>A	XP_011539022.1:n.-85+168T>A
XM_011540721.1:c.-791T>A	XP_011539023.1:n.-791T>A
XR_946545.1:n.2036T>A
NR_134980.1:n.1956T>A
XM_017000334.1:c.1791T>A	XP_016855823.1:p.Pro597=
XM_017000335.1:c.1785T>A	XP_016855824.1:p.Pro595=
XM_017000336.1:c.1791T>A	XP_016855825.1:p.Pro597=
XM_017000337.1:c.189T>A	XP_016855826.1:p.Pro63=
NM_001854.4:c.1638T>A MANE Select	NP_001845.3:p.Pro546=
NM_080630.4:c.1290T>A	NP_542197.3:p.Pro430=
NR_134980.2:n.1982T>A
NM_001190709.2:c.1521T>A	NP_001177638.1:p.Pro507=
NM_080629.3:c.1674T>A	NP_542196.2:p.Pro558=