Canonical Allele Identifier: CA341163766

Gene: COL11A1

Linked Data

• gnomAD v4: 1-102979100-A-G
• MyVariant Identifiers: chr1:g.103444656A>G (hg19) ; chr1:g.102979100A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102979100A>G , CM000663.2:g.102979100A>G	GRCh38
NC_000001.10:g.103444656A>G , CM000663.1:g.103444656A>G	GRCh37
NC_000001.9:g.103217244A>G	NCBI36
NG_008033.1:g.134397T>C
NG_008033.2:g.134397T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.2615T>C MANE Select	ENSP00000359114.3:p.Val872Ala
ENST00000353414.8:c.2498T>C	ENSP00000302551.6:p.Val833Ala
ENST00000358392.6:c.2651T>C	ENSP00000351163.2:p.Val884Ala
ENST00000370096.7:c.2615T>C	ENSP00000359114.3:p.Val872Ala
ENST00000512756.5:c.2267T>C	ENSP00000426533.1:p.Val756Ala
ENST00000635193.1:c.1949T>C
NM_001190709.1:c.2498T>C	NP_001177638.1:p.Val833Ala
NM_001854.3:c.2615T>C	NP_001845.3:p.Val872Ala
NM_080629.2:c.2651T>C	NP_542196.2:p.Val884Ala
NM_080630.3:c.2267T>C	NP_542197.3:p.Val756Ala
XM_011540719.1:c.2615T>C	XP_011539021.1:p.Val872Ala
XM_011540720.1:c.848T>C	XP_011539022.1:p.Val283Ala
XM_011540721.1:c.203T>C	XP_011539023.1:p.Val68Ala
XR_946545.1:n.3029T>C
NR_134980.1:n.2949T>C
XM_017000334.1:c.2768T>C	XP_016855823.1:p.Val923Ala
XM_017000335.1:c.2762T>C	XP_016855824.1:p.Val921Ala
XM_017000336.1:c.2768T>C	XP_016855825.1:p.Val923Ala
XM_017000337.1:c.1166T>C	XP_016855826.1:p.Val389Ala
NM_001854.4:c.2615T>C MANE Select	NP_001845.3:p.Val872Ala
NM_080630.4:c.2267T>C	NP_542197.3:p.Val756Ala
NR_134980.2:n.2975T>C
NM_001190709.2:c.2498T>C	NP_001177638.1:p.Val833Ala
NM_080629.3:c.2651T>C	NP_542196.2:p.Val884Ala