Canonical Allele Identifier: CA341161354

Gene: COL11A1

Linked Data

• MyVariant Identifiers: chr1:g.103380297T>A (hg19) ; chr1:g.102914741T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102914741T>A , CM000663.2:g.102914741T>A	GRCh38
NC_000001.10:g.103380297T>A , CM000663.1:g.103380297T>A	GRCh37
NC_000001.9:g.103152885T>A	NCBI36
NG_008033.1:g.198756A>T
NG_008033.2:g.198756A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000370096.9:c.3887A>T MANE Select	ENSP00000359114.3:p.Lys1296Met
ENST00000353414.8:c.3770A>T	ENSP00000302551.6:p.Lys1257Met
ENST00000358392.6:c.3923A>T	ENSP00000351163.2:p.Lys1308Met
ENST00000370096.7:c.3887A>T	ENSP00000359114.3:p.Lys1296Met
ENST00000512756.5:c.3539A>T	ENSP00000426533.1:p.Lys1180Met
ENST00000635193.1:c.3221A>T
NM_001190709.1:c.3770A>T	NP_001177638.1:p.Lys1257Met
NM_001854.3:c.3887A>T	NP_001845.3:p.Lys1296Met
NM_080629.2:c.3923A>T	NP_542196.2:p.Lys1308Met
NM_080630.3:c.3539A>T	NP_542197.3:p.Lys1180Met
XM_011540719.1:c.3887A>T	XP_011539021.1:p.Lys1296Met
XM_011540720.1:c.2120A>T	XP_011539022.1:p.Lys707Met
XM_011540721.1:c.1475A>T	XP_011539023.1:p.Lys492Met
NR_134980.1:n.4221A>T
XM_017000334.1:c.4040A>T	XP_016855823.1:p.Lys1347Met
XM_017000335.1:c.4034A>T	XP_016855824.1:p.Lys1345Met
XM_017000336.1:c.4040A>T	XP_016855825.1:p.Lys1347Met
XM_017000337.1:c.2438A>T	XP_016855826.1:p.Lys813Met
NM_001854.4:c.3887A>T MANE Select	NP_001845.3:p.Lys1296Met
NM_080630.4:c.3539A>T	NP_542197.3:p.Lys1180Met
NR_134980.2:n.4247A>T
NM_001190709.2:c.3770A>T	NP_001177638.1:p.Lys1257Met
NM_080629.3:c.3923A>T	NP_542196.2:p.Lys1308Met