Canonical Allele Identifier: CA341171451

Gene: COL11A1

Linked Data

• COSMIC: COSM3470462 ; COSM3470463
• MyVariant Identifiers: chr1:g.103412505G>A (hg19) ; chr1:g.102946949G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102946949G>A , CM000663.2:g.102946949G>A	GRCh38
NC_000001.10:g.103412505G>A , CM000663.1:g.103412505G>A	GRCh37
NC_000001.9:g.103185093G>A	NCBI36
NG_008033.1:g.166548C>T
NG_008033.2:g.166548C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.3176C>T MANE Select	ENSP00000359114.3:p.Pro1059Leu
ENST00000353414.8:c.3059C>T	ENSP00000302551.6:p.Pro1020Leu
ENST00000358392.6:c.3212C>T	ENSP00000351163.2:p.Pro1071Leu
ENST00000370096.7:c.3176C>T	ENSP00000359114.3:p.Pro1059Leu
ENST00000512756.5:c.2828C>T	ENSP00000426533.1:p.Pro943Leu
ENST00000635193.1:c.2510C>T
NM_001190709.1:c.3059C>T	NP_001177638.1:p.Pro1020Leu
NM_001854.3:c.3176C>T	NP_001845.3:p.Pro1059Leu
NM_080629.2:c.3212C>T	NP_542196.2:p.Pro1071Leu
NM_080630.3:c.2828C>T	NP_542197.3:p.Pro943Leu
XM_011540719.1:c.3176C>T	XP_011539021.1:p.Pro1059Leu
XM_011540720.1:c.1409C>T	XP_011539022.1:p.Pro470Leu
XM_011540721.1:c.764C>T	XP_011539023.1:p.Pro255Leu
NR_134980.1:n.3510C>T
XM_017000334.1:c.3329C>T	XP_016855823.1:p.Pro1110Leu
XM_017000335.1:c.3323C>T	XP_016855824.1:p.Pro1108Leu
XM_017000336.1:c.3329C>T	XP_016855825.1:p.Pro1110Leu
XM_017000337.1:c.1727C>T	XP_016855826.1:p.Pro576Leu
NM_001854.4:c.3176C>T MANE Select	NP_001845.3:p.Pro1059Leu
NM_080630.4:c.2828C>T	NP_542197.3:p.Pro943Leu
NR_134980.2:n.3536C>T
NM_001190709.2:c.3059C>T	NP_001177638.1:p.Pro1020Leu
NM_080629.3:c.3212C>T	NP_542196.2:p.Pro1071Leu