Canonical Allele Identifier: CA341162841

Gene: COL11A1

Linked Data

• dbSNP Id: rs1662739888
• gnomAD v3: 1-102978708-T-G
• gnomAD v4: 1-102978708-T-G
• MyVariant Identifiers: chr1:g.103444264T>G (hg19) ; chr1:g.102978708T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102978708T>G , CM000663.2:g.102978708T>G	GRCh38
NC_000001.10:g.103444264T>G , CM000663.1:g.103444264T>G	GRCh37
NC_000001.9:g.103216852T>G	NCBI36
NG_008033.1:g.134789A>C
NG_008033.2:g.134789A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000370096.9:c.2754A>C MANE Select	ENSP00000359114.3:p.Arg918Ser
ENST00000353414.8:c.2637A>C	ENSP00000302551.6:p.Arg879Ser
ENST00000358392.6:c.2790A>C	ENSP00000351163.2:p.Arg930Ser
ENST00000370096.7:c.2754A>C	ENSP00000359114.3:p.Arg918Ser
ENST00000512756.5:c.2406A>C	ENSP00000426533.1:p.Arg802Ser
ENST00000635193.1:c.2088A>C
NM_001190709.1:c.2637A>C	NP_001177638.1:p.Arg879Ser
NM_001854.3:c.2754A>C	NP_001845.3:p.Arg918Ser
NM_080629.2:c.2790A>C	NP_542196.2:p.Arg930Ser
NM_080630.3:c.2406A>C	NP_542197.3:p.Arg802Ser
XM_011540719.1:c.2754A>C	XP_011539021.1:p.Arg918Ser
XM_011540720.1:c.987A>C	XP_011539022.1:p.Arg329Ser
XM_011540721.1:c.342A>C	XP_011539023.1:p.Arg114Ser
XR_946545.1:n.3168A>C
NR_134980.1:n.3088A>C
XM_017000334.1:c.2907A>C	XP_016855823.1:p.Arg969Ser
XM_017000335.1:c.2901A>C	XP_016855824.1:p.Arg967Ser
XM_017000336.1:c.2907A>C	XP_016855825.1:p.Arg969Ser
XM_017000337.1:c.1305A>C	XP_016855826.1:p.Arg435Ser
NM_001854.4:c.2754A>C MANE Select	NP_001845.3:p.Arg918Ser
NM_080630.4:c.2406A>C	NP_542197.3:p.Arg802Ser
NR_134980.2:n.3114A>C
NM_001190709.2:c.2637A>C	NP_001177638.1:p.Arg879Ser
NM_080629.3:c.2790A>C	NP_542196.2:p.Arg930Ser