Canonical Allele Identifier: CA8644376
Gene: COL1A1 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.50186774C>T
GRCh37 chr17:g.48264135C>T
Revel Score:
ENST00000225964 (MANE Select) 0.485
gnomAD v2:
17:48264135 C / T
gnomAD v3:
17:50186774 C / T
gnomAD v4:
chr17-50186774-C-T
Joint Max Group AF 0.00004282 (AMR)
Genomes Max Group AF 0.00005279 (AMR)
Exomes Max Group AF 0.00002374 (AFR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50186774C>T , CM000679.2:g.50186774C>T GRCh38
NC_000017.10:g.48264135C>T , CM000679.1:g.48264135C>T GRCh37
NC_000017.9:g.45619134C>T NCBI36
NG_007400.1:g.19866G>A , LRG_1:g.19866G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.3680G>A MANE Select ENSP00000225964.6:p.Arg1227His
ENST00000225964.9:c.3680G>A ENSP00000225964.5:p.Arg1227His
ENST00000510710.3:n.349G>A
NM_000088.3:c.3680G>A , LRG_1t1:c.3680G>A NP_000079.2:p.Arg1227His
XM_005257058.3:c.3410G>A XP_005257115.2:p.Arg1137His
XM_005257059.3:c.2762G>A XP_005257116.2:p.Arg921His
XM_011524341.1:c.3482G>A XP_011522643.1:p.Arg1161His
XM_005257058.4:c.3410G>A XP_005257115.2:p.Arg1137His
XM_005257059.4:c.2762G>A XP_005257116.2:p.Arg921His
NM_000088.4:c.3680G>A MANE Select NP_000079.2:p.Arg1227His
Search 100 bp 5'
Search 100 bp 3'