Canonical Allele Identifier: CA400215293
Gene: COL1A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50193981C>G , CM000679.2:g.50193981C>G GRCh38
NC_000017.10:g.48271342C>G , CM000679.1:g.48271342C>G GRCh37
NC_000017.9:g.45626341C>G NCBI36
NG_007400.1:g.12659G>C , LRG_1:g.12659G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.1729G>C MANE Select ENSP00000225964.6:p.Ala577Pro
ENST00000225964.9:c.1729G>C ENSP00000225964.5:p.Ala577Pro
ENST00000463440.1:n.119G>C
ENST00000471344.1:n.761G>C
ENST00000476387.1:n.78G>C
NM_000088.3:c.1729G>C , LRG_1t1:c.1729G>C NP_000079.2:p.Ala577Pro
XM_005257058.3:c.1729G>C XP_005257115.2:p.Ala577Pro
XM_005257059.3:c.958-1288G>C XP_005257116.2:n.958-1288G>C
XM_011524341.1:c.1531G>C XP_011522643.1:p.Ala511Pro
XM_005257058.4:c.1729G>C XP_005257115.2:p.Ala577Pro
XM_005257059.4:c.958-1288G>C XP_005257116.2:n.958-1288G>C
NM_000088.4:c.1729G>C MANE Select NP_000079.2:p.Ala577Pro