Canonical Allele Identifier: CA8644546
Gene: COL1A1 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.50188541G>A
GRCh37 chr17:g.48265902G>A
Revel Score:
ENST00000225964 (MANE Select) 0.922
gnomAD v2:
17:48265902 G / A
gnomAD v3:
17:50188541 G / A
gnomAD v4:
chr17-50188541-G-A
Joint Max Group AF 0.00010201 (AMR)
Genomes Max Group AF 0.00005286 (AMR)
Exomes Max Group AF 0.00008861 (AMR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50188541G>A , CM000679.2:g.50188541G>A GRCh38
NC_000017.10:g.48265902G>A , CM000679.1:g.48265902G>A GRCh37
NC_000017.9:g.45620901G>A NCBI36
NG_007400.1:g.18099C>T , LRG_1:g.18099C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.3196C>T MANE Select ENSP00000225964.6:p.Arg1066Cys
ENST00000225964.9:c.3196C>T ENSP00000225964.5:p.Arg1066Cys
ENST00000486572.1:n.14C>T
ENST00000511732.1:n.140C>T
NM_000088.3:c.3196C>T , LRG_1t1:c.3196C>T NP_000079.2:p.Arg1066Cys
XM_005257058.3:c.2926C>T XP_005257115.2:p.Arg976Cys
XM_005257059.3:c.2278C>T XP_005257116.2:p.Arg760Cys
XM_011524341.1:c.2998C>T XP_011522643.1:p.Arg1000Cys
XM_005257058.4:c.2926C>T XP_005257115.2:p.Arg976Cys
XM_005257059.4:c.2278C>T XP_005257116.2:p.Arg760Cys
NM_000088.4:c.3196C>T MANE Select NP_000079.2:p.Arg1066Cys
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