Canonical Allele Identifier: CA341161352

Gene: COL11A1

Linked Data

• MyVariant Identifiers: chr1:g.103380296C>G (hg19) ; chr1:g.102914740C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102914740C>G , CM000663.2:g.102914740C>G	GRCh38
NC_000001.10:g.103380296C>G , CM000663.1:g.103380296C>G	GRCh37
NC_000001.9:g.103152884C>G	NCBI36
NG_008033.1:g.198757G>C
NG_008033.2:g.198757G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000370096.9:c.3888G>C MANE Select	ENSP00000359114.3:p.Lys1296Asn
ENST00000353414.8:c.3771G>C	ENSP00000302551.6:p.Lys1257Asn
ENST00000358392.6:c.3924G>C	ENSP00000351163.2:p.Lys1308Asn
ENST00000370096.7:c.3888G>C	ENSP00000359114.3:p.Lys1296Asn
ENST00000512756.5:c.3540G>C	ENSP00000426533.1:p.Lys1180Asn
ENST00000635193.1:c.3222G>C
NM_001190709.1:c.3771G>C	NP_001177638.1:p.Lys1257Asn
NM_001854.3:c.3888G>C	NP_001845.3:p.Lys1296Asn
NM_080629.2:c.3924G>C	NP_542196.2:p.Lys1308Asn
NM_080630.3:c.3540G>C	NP_542197.3:p.Lys1180Asn
XM_011540719.1:c.3888G>C	XP_011539021.1:p.Lys1296Asn
XM_011540720.1:c.2121G>C	XP_011539022.1:p.Lys707Asn
XM_011540721.1:c.1476G>C	XP_011539023.1:p.Lys492Asn
NR_134980.1:n.4222G>C
XM_017000334.1:c.4041G>C	XP_016855823.1:p.Lys1347Asn
XM_017000335.1:c.4035G>C	XP_016855824.1:p.Lys1345Asn
XM_017000336.1:c.4041G>C	XP_016855825.1:p.Lys1347Asn
XM_017000337.1:c.2439G>C	XP_016855826.1:p.Lys813Asn
NM_001854.4:c.3888G>C MANE Select	NP_001845.3:p.Lys1296Asn
NM_080630.4:c.3540G>C	NP_542197.3:p.Lys1180Asn
NR_134980.2:n.4248G>C
NM_001190709.2:c.3771G>C	NP_001177638.1:p.Lys1257Asn
NM_080629.3:c.3924G>C	NP_542196.2:p.Lys1308Asn