Canonical Allele Identifier: CA341161359

Gene: COL11A1

Linked Data

• MyVariant Identifiers: chr1:g.103380298T>A (hg19) ; chr1:g.102914742T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102914742T>A , CM000663.2:g.102914742T>A	GRCh38
NC_000001.10:g.103380298T>A , CM000663.1:g.103380298T>A	GRCh37
NC_000001.9:g.103152886T>A	NCBI36
NG_008033.1:g.198755A>T
NG_008033.2:g.198755A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000370096.9:c.3886A>T MANE Select	ENSP00000359114.3:p.Lys1296Ter
ENST00000353414.8:c.3769A>T	ENSP00000302551.6:p.Lys1257Ter
ENST00000358392.6:c.3922A>T	ENSP00000351163.2:p.Lys1308Ter
ENST00000370096.7:c.3886A>T	ENSP00000359114.3:p.Lys1296Ter
ENST00000512756.5:c.3538A>T	ENSP00000426533.1:p.Lys1180Ter
ENST00000635193.1:c.3220A>T
NM_001190709.1:c.3769A>T	NP_001177638.1:p.Lys1257Ter
NM_001854.3:c.3886A>T	NP_001845.3:p.Lys1296Ter
NM_080629.2:c.3922A>T	NP_542196.2:p.Lys1308Ter
NM_080630.3:c.3538A>T	NP_542197.3:p.Lys1180Ter
XM_011540719.1:c.3886A>T	XP_011539021.1:p.Lys1296Ter
XM_011540720.1:c.2119A>T	XP_011539022.1:p.Lys707Ter
XM_011540721.1:c.1474A>T	XP_011539023.1:p.Lys492Ter
NR_134980.1:n.4220A>T
XM_017000334.1:c.4039A>T	XP_016855823.1:p.Lys1347Ter
XM_017000335.1:c.4033A>T	XP_016855824.1:p.Lys1345Ter
XM_017000336.1:c.4039A>T	XP_016855825.1:p.Lys1347Ter
XM_017000337.1:c.2437A>T	XP_016855826.1:p.Lys813Ter
NM_001854.4:c.3886A>T MANE Select	NP_001845.3:p.Lys1296Ter
NM_080630.4:c.3538A>T	NP_542197.3:p.Lys1180Ter
NR_134980.2:n.4246A>T
NM_001190709.2:c.3769A>T	NP_001177638.1:p.Lys1257Ter
NM_080629.3:c.3922A>T	NP_542196.2:p.Lys1308Ter