Canonical Allele Identifier: CA10607195

Gene: COL11A1

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102876531C>G , CM000663.2:g.102876531C>G	GRCh38
NC_000001.10:g.103342087C>G , CM000663.1:g.103342087C>G	GRCh37
NC_000001.9:g.103114675C>G	NCBI36
NG_008033.1:g.236966G>C
NG_008033.2:g.236966G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.*1488G>C MANE Select	ENSP00000359114.3:n.*1488G>C
ENST00000353414.8:c.*1488G>C	ENSP00000302551.6:n.*1488G>C
ENST00000358392.6:c.*1488G>C	ENSP00000351163.2:n.*1488G>C
ENST00000370096.7:c.*1488G>C	ENSP00000359114.3:n.*1488G>C
NM_001190709.1:c.*1488G>C	NP_001177638.1:n.*1488G>C
NM_001854.3:c.*1488G>C	NP_001845.3:n.*1488G>C
NM_080629.2:c.*1488G>C	NP_542196.2:n.*1488G>C
NM_080630.3:c.*1488G>C	NP_542197.3:n.*1488G>C
XM_011540720.1:c.*1488G>C	XP_011539022.1:n.*1488G>C
XM_011540721.1:c.*1488G>C	XP_011539023.1:n.*1488G>C
NR_134980.1:n.7243G>C
XM_017000334.1:c.*1488G>C	XP_016855823.1:n.*1488G>C
NM_001854.4:c.*1488G>C MANE Select	NP_001845.3:n.*1488G>C
NM_080630.4:c.*1488G>C	NP_542197.3:n.*1488G>C
NR_134980.2:n.7269G>C
NM_001190709.2:c.*1488G>C	NP_001177638.1:n.*1488G>C
NM_080629.3:c.*1488G>C	NP_542196.2:n.*1488G>C