Canonical Allele Identifier: CA8644169
Gene: COL1A1 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.50185525C>T
GRCh37 chr17:g.48262886C>T
Revel Score:
ENST00000225964 (MANE Select) 0.137
gnomAD v2:
17:48262886 C / T
gnomAD v3:
17:50185525 C / T
gnomAD v4:
chr17-50185525-C-T
Joint Max Group AF 0.0001071 (NFE)
Genomes Max Group AF 0.0001019 (NFE)
Exomes Max Group AF 0.00010371 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50185525C>T , CM000679.2:g.50185525C>T GRCh38
NC_000017.10:g.48262886C>T , CM000679.1:g.48262886C>T GRCh37
NC_000017.9:g.45617885C>T NCBI36
NG_007400.1:g.21115G>A , LRG_1:g.21115G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.4372G>A MANE Select ENSP00000225964.6:p.Val1458Ile
ENST00000225964.9:c.4372G>A ENSP00000225964.5:p.Val1458Ile
NM_000088.3:c.4372G>A , LRG_1t1:c.4372G>A NP_000079.2:p.Val1458Ile
XM_005257058.3:c.4102G>A XP_005257115.2:p.Val1368Ile
XM_005257059.3:c.3454G>A XP_005257116.2:p.Val1152Ile
XM_011524341.1:c.4174G>A XP_011522643.1:p.Val1392Ile
XM_005257058.4:c.4102G>A XP_005257115.2:p.Val1368Ile
XM_005257059.4:c.3454G>A XP_005257116.2:p.Val1152Ile
NM_000088.4:c.4372G>A MANE Select NP_000079.2:p.Val1458Ile
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