Canonical Allele Identifier: CA16603379
Gene: COL11A1 HGNC NCBI

Linked Data

dbSNP Id: rs1057524237
MyVariant Identifiers: chr1:g.103381182C>T (hg19) chr1:g.102915626C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.102915626C>T , CM000663.2:g.102915626C>T GRCh38
NC_000001.10:g.103381182C>T , CM000663.1:g.103381182C>T GRCh37
NC_000001.9:g.103153770C>T NCBI36
NG_008033.1:g.197871G>A
NG_008033.2:g.197871G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000370096.9:c.3816+5G>A MANE Select ENSP00000359114.3:n.3816+5G>A
ENST00000353414.8:c.3699+5G>A ENSP00000302551.6:n.3699+5G>A
ENST00000358392.6:c.3852+5G>A ENSP00000351163.2:n.3852+5G>A
ENST00000370096.7:c.3816+5G>A ENSP00000359114.3:n.3816+5G>A
ENST00000512756.5:c.3468+5G>A ENSP00000426533.1:n.3468+5G>A
ENST00000635193.1:c.3150+5G>A
NM_001190709.1:c.3699+5G>A NP_001177638.1:n.3699+5G>A
NM_001854.3:c.3816+5G>A NP_001845.3:n.3816+5G>A
NM_080629.2:c.3852+5G>A NP_542196.2:n.3852+5G>A
NM_080630.3:c.3468+5G>A NP_542197.3:n.3468+5G>A
XM_011540719.1:c.3816+5G>A XP_011539021.1:n.3816+5G>A
XM_011540720.1:c.2049+5G>A XP_011539022.1:n.2049+5G>A
XM_011540721.1:c.1404+5G>A XP_011539023.1:n.1404+5G>A
NR_134980.1:n.4150+5G>A
XM_017000334.1:c.3969+5G>A XP_016855823.1:n.3969+5G>A
XM_017000335.1:c.3963+5G>A XP_016855824.1:n.3963+5G>A
XM_017000336.1:c.3969+5G>A XP_016855825.1:n.3969+5G>A
XM_017000337.1:c.2367+5G>A XP_016855826.1:n.2367+5G>A
NM_001854.4:c.3816+5G>A MANE Select NP_001845.3:n.3816+5G>A
NM_080630.4:c.3468+5G>A NP_542197.3:n.3468+5G>A
NR_134980.2:n.4176+5G>A
NM_001190709.2:c.3699+5G>A NP_001177638.1:n.3699+5G>A
NM_080629.3:c.3852+5G>A NP_542196.2:n.3852+5G>A
Search 100 bp 5'
Search 100 bp 3'