Canonical Allele Identifier: CA260284
Gene: COL1A1 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.50192687C>T
GRCh37 chr17:g.48270048C>T
Revel Score:
ENST00000225964 (MANE Select) 0.380
gnomAD v2:
17:48270048 C / T
gnomAD v3:
17:50192687 C / T
gnomAD v4:
chr17-50192687-C-T
Joint Max Group AF 0.00069307 (AMR)
Genomes Max Group AF 0.00141075 (AMR)
Exomes Max Group AF 0.00040023 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50192687C>T , CM000679.2:g.50192687C>T GRCh38
NC_000017.10:g.48270048C>T , CM000679.1:g.48270048C>T GRCh37
NC_000017.9:g.45625047C>T NCBI36
NG_007400.1:g.13953G>A , LRG_1:g.13953G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.1882G>A MANE Select ENSP00000225964.6:p.Ala628Thr
ENST00000225964.9:c.1882G>A ENSP00000225964.5:p.Ala628Thr
ENST00000476387.1:n.231G>A
NM_000088.3:c.1882G>A , LRG_1t1:c.1882G>A NP_000079.2:p.Ala628Thr
XM_005257058.3:c.1882G>A XP_005257115.2:p.Ala628Thr
XM_005257059.3:c.964G>A XP_005257116.2:p.Ala322Thr
XM_011524341.1:c.1684G>A XP_011522643.1:p.Ala562Thr
XM_005257058.4:c.1882G>A XP_005257115.2:p.Ala628Thr
XM_005257059.4:c.964G>A XP_005257116.2:p.Ala322Thr
NM_000088.4:c.1882G>A MANE Select NP_000079.2:p.Ala628Thr
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