Canonical Allele Identifier: CA8644328
Gene: COL1A1 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.50186473G>T
GRCh37 chr17:g.48263834G>T
Revel Score:
ENST00000225964 (MANE Select) 0.199
gnomAD v2:
17:48263834 G / T
gnomAD v3:
17:50186473 G / T
gnomAD v4:
chr17-50186473-G-T
Joint Max Group AF 0.00050656 (AFR)
Genomes Max Group AF 0.00053908 (AFR)
Exomes Max Group AF 0.00034723 (AFR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50186473G>T , CM000679.2:g.50186473G>T GRCh38
NC_000017.10:g.48263834G>T , CM000679.1:g.48263834G>T GRCh37
NC_000017.9:g.45618833G>T NCBI36
NG_007400.1:g.20167C>A , LRG_1:g.20167C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.3849C>A MANE Select ENSP00000225964.6:p.Asn1283Lys
ENST00000225964.9:c.3849C>A ENSP00000225964.5:p.Asn1283Lys
ENST00000510710.3:n.518C>A
NM_000088.3:c.3849C>A , LRG_1t1:c.3849C>A NP_000079.2:p.Asn1283Lys
XM_005257058.3:c.3579C>A XP_005257115.2:p.Asn1193Lys
XM_005257059.3:c.2931C>A XP_005257116.2:p.Asn977Lys
XM_011524341.1:c.3651C>A XP_011522643.1:p.Asn1217Lys
XM_005257058.4:c.3579C>A XP_005257115.2:p.Asn1193Lys
XM_005257059.4:c.2931C>A XP_005257116.2:p.Asn977Lys
NM_000088.4:c.3849C>A MANE Select NP_000079.2:p.Asn1283Lys
Search 100 bp 5'
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