Canonical Allele Identifier: CA8644548
Gene: COL1A1 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.50188568C>T
GRCh37 chr17:g.48265929C>T
Revel Score:
ENST00000225964 (MANE Select) 0.356
gnomAD v2:
17:48265929 C / T
gnomAD v3:
17:50188568 C / T
gnomAD v4:
chr17-50188568-C-T
Joint Max Group AF 0.00004283 (AMR)
Genomes Max Group AF 0.00002848 (NFE)
Exomes Max Group AF 0.00004358 (AMR)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50188568C>T , CM000679.2:g.50188568C>T GRCh38
NC_000017.10:g.48265929C>T , CM000679.1:g.48265929C>T GRCh37
NC_000017.9:g.45620928C>T NCBI36
NG_007400.1:g.18072G>A , LRG_1:g.18072G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.3169G>A MANE Select ENSP00000225964.6:p.Val1057Ile
ENST00000225964.9:c.3169G>A ENSP00000225964.5:p.Val1057Ile
ENST00000511732.1:n.113G>A
NM_000088.3:c.3169G>A , LRG_1t1:c.3169G>A NP_000079.2:p.Val1057Ile
XM_005257058.3:c.2899G>A XP_005257115.2:p.Val967Ile
XM_005257059.3:c.2251G>A XP_005257116.2:p.Val751Ile
XM_011524341.1:c.2971G>A XP_011522643.1:p.Val991Ile
XM_005257058.4:c.2899G>A XP_005257115.2:p.Val967Ile
XM_005257059.4:c.2251G>A XP_005257116.2:p.Val751Ile
NM_000088.4:c.3169G>A MANE Select NP_000079.2:p.Val1057Ile
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