Canonical Allele Identifier: CA1185249172
Gene: COL11A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.102927901C>G , CM000663.2:g.102927901C>G GRCh38
NC_000001.10:g.103393457C>G , CM000663.1:g.103393457C>G GRCh37
NC_000001.9:g.103166045C>G NCBI36
NG_008033.1:g.185596G>C
NG_008033.2:g.185596G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370096.9:c.3601-4512G>C MANE Select ENSP00000359114.3:n.3601-4512G>C
ENST00000353414.8:c.3484-4512G>C ENSP00000302551.6:n.3484-4512G>C
ENST00000358392.6:c.3637-4512G>C ENSP00000351163.2:n.3637-4512G>C
ENST00000370096.7:c.3601-4512G>C ENSP00000359114.3:n.3601-4512G>C
ENST00000512756.5:c.3253-4512G>C ENSP00000426533.1:n.3253-4512G>C
ENST00000635193.1:c.2935-4512G>C
NM_001190709.1:c.3484-4512G>C NP_001177638.1:n.3484-4512G>C
NM_001854.3:c.3601-4512G>C NP_001845.3:n.3601-4512G>C
NM_080629.2:c.3637-4512G>C NP_542196.2:n.3637-4512G>C
NM_080630.3:c.3253-4512G>C NP_542197.3:n.3253-4512G>C
XM_011540719.1:c.3601-4512G>C XP_011539021.1:n.3601-4512G>C
XM_011540720.1:c.1834-4512G>C XP_011539022.1:n.1834-4512G>C
XM_011540721.1:c.1189-4512G>C XP_011539023.1:n.1189-4512G>C
NR_134980.1:n.3935-4512G>C
XM_017000334.1:c.3754-4512G>C XP_016855823.1:n.3754-4512G>C
XM_017000335.1:c.3748-4512G>C XP_016855824.1:n.3748-4512G>C
XM_017000336.1:c.3754-4512G>C XP_016855825.1:n.3754-4512G>C
XM_017000337.1:c.2152-4512G>C XP_016855826.1:n.2152-4512G>C
NM_001854.4:c.3601-4512G>C MANE Select NP_001845.3:n.3601-4512G>C
NM_080630.4:c.3253-4512G>C NP_542197.3:n.3253-4512G>C
NR_134980.2:n.3961-4512G>C
NM_001190709.2:c.3484-4512G>C NP_001177638.1:n.3484-4512G>C
NM_080629.3:c.3637-4512G>C NP_542196.2:n.3637-4512G>C