Canonical Allele Identifier: CA2573051325

Gene: COL11A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102997075C>A , CM000663.2:g.102997075C>A	GRCh38
NC_000001.10:g.103462631C>A , CM000663.1:g.103462631C>A	GRCh37
NC_000001.9:g.103235219C>A	NCBI36
NG_008033.1:g.116422G>T
NG_008033.2:g.116422G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001854.4:c.2241+5G>T MANE Select	NP_001845.3:n.2241+5G>T
ENST00000370096.9:c.2241+5G>T MANE Select	ENSP00000359114.3:n.2241+5G>T
NM_001190709.1:c.2124+5G>T	NP_001177638.1:n.2124+5G>T
NM_001190709.2:c.2124+5G>T	NP_001177638.1:n.2124+5G>T
NM_001854.3:c.2241+5G>T	NP_001845.3:n.2241+5G>T
NM_080629.2:c.2277+5G>T	NP_542196.2:n.2277+5G>T
NM_080629.3:c.2277+5G>T	NP_542196.2:n.2277+5G>T
NM_080630.3:c.1893+5G>T	NP_542197.3:n.1893+5G>T
NM_080630.4:c.1893+5G>T	NP_542197.3:n.1893+5G>T
NR_134980.1:n.2559+5G>T
NR_134980.2:n.2585+5G>T
ENST00000353414.8:c.2124+5G>T	ENSP00000302551.6:n.2124+5G>T
ENST00000358392.6:c.2277+5G>T	ENSP00000351163.2:n.2277+5G>T
ENST00000370096.7:c.2241+5G>T	ENSP00000359114.3:n.2241+5G>T
ENST00000512756.5:c.1893+5G>T	ENSP00000426533.1:n.1893+5G>T
ENST00000635193.1:c.1559+5G>T
XM_011540719.1:c.2241+5G>T	XP_011539021.1:n.2241+5G>T
XM_011540720.1:c.474+5G>T	XP_011539022.1:n.474+5G>T
XM_011540721.1:c.-188+5G>T	XP_011539023.1:n.-188+5G>T
XM_017000334.1:c.2394+5G>T	XP_016855823.1:n.2394+5G>T
XM_017000335.1:c.2388+5G>T	XP_016855824.1:n.2388+5G>T
XM_017000336.1:c.2394+5G>T	XP_016855825.1:n.2394+5G>T
XM_017000337.1:c.792+5G>T	XP_016855826.1:n.792+5G>T
XR_946545.1:n.2639+5G>T