Canonical Allele Identifier: CA260278
Gene: COL1A1 HGNC NCBI
COSMIC:
COSM4673643 (not active)
MyVariant.info:
GRCh38 chr17:g.50194380C>T
GRCh37 chr17:g.48271741C>T
Revel Score:
ENST00000225964 (MANE Select) 0.698
gnomAD v2:
17:48271741 C / T
gnomAD v3:
17:50194380 C / T
gnomAD v4:
chr17-50194380-C-T
Joint Max Group AF 0.00060409 (AMR)
Genomes Max Group AF 0.00026003 (AMR)
Exomes Max Group AF 0.00065491 (AMR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50194380C>T , CM000679.2:g.50194380C>T GRCh38
NC_000017.10:g.48271741C>T , CM000679.1:g.48271741C>T GRCh37
NC_000017.9:g.45626740C>T NCBI36
NG_007400.1:g.12260G>A , LRG_1:g.12260G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.1583G>A MANE Select ENSP00000225964.6:p.Arg528His
ENST00000225964.9:c.1583G>A ENSP00000225964.5:p.Arg528His
ENST00000471344.1:n.527G>A
NM_000088.3:c.1583G>A , LRG_1t1:c.1583G>A NP_000079.2:p.Arg528His
XM_005257058.3:c.1583G>A XP_005257115.2:p.Arg528His
XM_005257059.3:c.958-1687G>A XP_005257116.2:n.958-1687G>A
XM_011524341.1:c.1385G>A XP_011522643.1:p.Arg462His
XM_005257058.4:c.1583G>A XP_005257115.2:p.Arg528His
XM_005257059.4:c.958-1687G>A XP_005257116.2:n.958-1687G>A
NM_000088.4:c.1583G>A MANE Select NP_000079.2:p.Arg528His
Search 100 bp 5'
Search 100 bp 3'