Canonical Allele Identifier: CA16607365
Gene: COL1A1 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.50188134C>T
gnomAD v3:
17:50188134 C / T
gnomAD v4:
chr17-50188134-C-T
Joint Max Group AF 0.0542157 (AFR)
Genomes Max Group AF 0.05222816 (AFR)
Exomes Max Group AF 0.05543994 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50188134C>T , CM000679.2:g.50188134C>T GRCh38
NG_007400.1:g.18506G>A , LRG_1:g.18506G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.3223G>A MANE Select ENSP00000225964.6:p.Ala1075Thr
ENST00000225964.9:c.3223G>A ENSP00000225964.5:p.Ala1075Thr
ENST00000486572.1:n.421G>A
ENST00000511732.1:n.547G>A
NM_000088.3:c.3223G>A , LRG_1t1:c.3223G>A NP_000079.2:p.Ala1075Thr
XM_005257058.3:c.2953G>A XP_005257115.2:p.Ala985Thr
XM_005257059.3:c.2305G>A XP_005257116.2:p.Ala769Thr
XM_011524341.1:c.3025G>A XP_011522643.1:p.Ala1009Thr
XM_005257058.4:c.2953G>A XP_005257115.2:p.Ala985Thr
XM_005257059.4:c.2305G>A XP_005257116.2:p.Ala769Thr
NM_000088.4:c.3223G>A MANE Select NP_000079.2:p.Ala1075Thr
Search 100 bp 5'
Search 100 bp 3'