Canonical Allele Identifier: CA8645806
Gene: COL1A1 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.50199822C>T
GRCh37 chr17:g.48277183C>T
Revel Score:
ENST00000225964 (MANE Select) 0.129
gnomAD v2:
17:48277183 C / T
gnomAD v4:
chr17-50199822-C-T
Joint Max Group AF 0.00005788 (EAS)
Exomes Max Group AF 0.0000651 (EAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50199822C>T , CM000679.2:g.50199822C>T GRCh38
NC_000017.10:g.48277183C>T , CM000679.1:g.48277183C>T GRCh37
NC_000017.9:g.45632182C>T NCBI36
NG_007400.1:g.6818G>A , LRG_1:g.6818G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.229G>A MANE Select ENSP00000225964.6:p.Glu77Lys
ENST00000225964.9:c.229G>A ENSP00000225964.5:p.Glu77Lys
ENST00000474644.1:n.348G>A
ENST00000507689.1:c.283G>A ENSP00000460459.1:p.Glu95Lys
NM_000088.3:c.229G>A , LRG_1t1:c.229G>A NP_000079.2:p.Glu77Lys
XM_005257058.3:c.229G>A XP_005257115.2:p.Glu77Lys
XM_005257059.3:c.229G>A XP_005257116.2:p.Glu77Lys
XM_011524341.1:c.229G>A XP_011522643.1:p.Glu77Lys
XM_005257058.4:c.229G>A XP_005257115.2:p.Glu77Lys
XM_005257059.4:c.229G>A XP_005257116.2:p.Glu77Lys
NM_000088.4:c.229G>A MANE Select NP_000079.2:p.Glu77Lys
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