Canonical Allele Identifier: CA341163777

Gene: COL11A1

Linked Data

• dbSNP Id: rs1253305498
• gnomAD v4: 1-102979101-C-G
• MyVariant Identifiers: chr1:g.103444657C>G (hg19) ; chr1:g.102979101C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102979101C>G , CM000663.2:g.102979101C>G	GRCh38
NC_000001.10:g.103444657C>G , CM000663.1:g.103444657C>G	GRCh37
NC_000001.9:g.103217245C>G	NCBI36
NG_008033.1:g.134396G>C
NG_008033.2:g.134396G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.2614G>C MANE Select	ENSP00000359114.3:p.Val872Leu
ENST00000353414.8:c.2497G>C	ENSP00000302551.6:p.Val833Leu
ENST00000358392.6:c.2650G>C	ENSP00000351163.2:p.Val884Leu
ENST00000370096.7:c.2614G>C	ENSP00000359114.3:p.Val872Leu
ENST00000512756.5:c.2266G>C	ENSP00000426533.1:p.Val756Leu
ENST00000635193.1:c.1948G>C
NM_001190709.1:c.2497G>C	NP_001177638.1:p.Val833Leu
NM_001854.3:c.2614G>C	NP_001845.3:p.Val872Leu
NM_080629.2:c.2650G>C	NP_542196.2:p.Val884Leu
NM_080630.3:c.2266G>C	NP_542197.3:p.Val756Leu
XM_011540719.1:c.2614G>C	XP_011539021.1:p.Val872Leu
XM_011540720.1:c.847G>C	XP_011539022.1:p.Val283Leu
XM_011540721.1:c.202G>C	XP_011539023.1:p.Val68Leu
XR_946545.1:n.3028G>C
NR_134980.1:n.2948G>C
XM_017000334.1:c.2767G>C	XP_016855823.1:p.Val923Leu
XM_017000335.1:c.2761G>C	XP_016855824.1:p.Val921Leu
XM_017000336.1:c.2767G>C	XP_016855825.1:p.Val923Leu
XM_017000337.1:c.1165G>C	XP_016855826.1:p.Val389Leu
NM_001854.4:c.2614G>C MANE Select	NP_001845.3:p.Val872Leu
NM_080630.4:c.2266G>C	NP_542197.3:p.Val756Leu
NR_134980.2:n.2974G>C
NM_001190709.2:c.2497G>C	NP_001177638.1:p.Val833Leu
NM_080629.3:c.2650G>C	NP_542196.2:p.Val884Leu