Canonical Allele Identifier: CA973782

Gene: COL11A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102914705G>A , CM000663.2:g.102914705G>A	GRCh38
NC_000001.10:g.103380261G>A , CM000663.1:g.103380261G>A	GRCh37
NC_000001.9:g.103152849G>A	NCBI36
NG_008033.1:g.198792C>T
NG_008033.2:g.198792C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001854.4:c.3923C>T MANE Select	NP_001845.3:p.Pro1308Leu
ENST00000370096.9:c.3923C>T MANE Select	ENSP00000359114.3:p.Pro1308Leu
NM_001190709.1:c.3806C>T	NP_001177638.1:p.Pro1269Leu
NM_001190709.2:c.3806C>T	NP_001177638.1:p.Pro1269Leu
NM_001854.3:c.3923C>T	NP_001845.3:p.Pro1308Leu
NM_080629.2:c.3959C>T	NP_542196.2:p.Pro1320Leu
NM_080629.3:c.3959C>T	NP_542196.2:p.Pro1320Leu
NM_080630.3:c.3575C>T	NP_542197.3:p.Pro1192Leu
NM_080630.4:c.3575C>T	NP_542197.3:p.Pro1192Leu
NR_134980.1:n.4257C>T
NR_134980.2:n.4283C>T
ENST00000353414.8:c.3806C>T	ENSP00000302551.6:p.Pro1269Leu
ENST00000358392.6:c.3959C>T	ENSP00000351163.2:p.Pro1320Leu
ENST00000370096.7:c.3923C>T	ENSP00000359114.3:p.Pro1308Leu
ENST00000512756.5:c.3575C>T	ENSP00000426533.1:p.Pro1192Leu
ENST00000635193.1:c.3257C>T
XM_011540719.1:c.3923C>T	XP_011539021.1:p.Pro1308Leu
XM_011540720.1:c.2156C>T	XP_011539022.1:p.Pro719Leu
XM_011540721.1:c.1511C>T	XP_011539023.1:p.Pro504Leu
XM_017000334.1:c.4076C>T	XP_016855823.1:p.Pro1359Leu
XM_017000335.1:c.4070C>T	XP_016855824.1:p.Pro1357Leu
XM_017000336.1:c.4076C>T	XP_016855825.1:p.Pro1359Leu
XM_017000337.1:c.2474C>T	XP_016855826.1:p.Pro825Leu