Canonical Allele Identifier: CA341163653

Gene: COL11A1

Linked Data

• MyVariant Identifiers: chr1:g.103444638G>T (hg19) ; chr1:g.102979082G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102979082G>T , CM000663.2:g.102979082G>T	GRCh38
NC_000001.10:g.103444638G>T , CM000663.1:g.103444638G>T	GRCh37
NC_000001.9:g.103217226G>T	NCBI36
NG_008033.1:g.134415C>A
NG_008033.2:g.134415C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.2633C>A MANE Select	ENSP00000359114.3:p.Pro878His
ENST00000353414.8:c.2516C>A	ENSP00000302551.6:p.Pro839His
ENST00000358392.6:c.2669C>A	ENSP00000351163.2:p.Pro890His
ENST00000370096.7:c.2633C>A	ENSP00000359114.3:p.Pro878His
ENST00000512756.5:c.2285C>A	ENSP00000426533.1:p.Pro762His
ENST00000635193.1:c.1967C>A
NM_001190709.1:c.2516C>A	NP_001177638.1:p.Pro839His
NM_001854.3:c.2633C>A	NP_001845.3:p.Pro878His
NM_080629.2:c.2669C>A	NP_542196.2:p.Pro890His
NM_080630.3:c.2285C>A	NP_542197.3:p.Pro762His
XM_011540719.1:c.2633C>A	XP_011539021.1:p.Pro878His
XM_011540720.1:c.866C>A	XP_011539022.1:p.Pro289His
XM_011540721.1:c.221C>A	XP_011539023.1:p.Pro74His
XR_946545.1:n.3047C>A
NR_134980.1:n.2967C>A
XM_017000334.1:c.2786C>A	XP_016855823.1:p.Pro929His
XM_017000335.1:c.2780C>A	XP_016855824.1:p.Pro927His
XM_017000336.1:c.2786C>A	XP_016855825.1:p.Pro929His
XM_017000337.1:c.1184C>A	XP_016855826.1:p.Pro395His
NM_001854.4:c.2633C>A MANE Select	NP_001845.3:p.Pro878His
NM_080630.4:c.2285C>A	NP_542197.3:p.Pro762His
NR_134980.2:n.2993C>A
NM_001190709.2:c.2516C>A	NP_001177638.1:p.Pro839His
NM_080629.3:c.2669C>A	NP_542196.2:p.Pro890His