Canonical Allele Identifier: CA8645573
Gene: COL1A1 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.50197190G>A
GRCh37 chr17:g.48274551G>A
Revel Score:
ENST00000225964 (MANE Select) 0.562
gnomAD v2:
17:48274551 G / A
gnomAD v3:
17:50197190 G / A
gnomAD v4:
chr17-50197190-G-A
Joint Max Group AF 0.00067831 (AMR)
Genomes Max Group AF 0.00169121 (AMR)
Exomes Max Group AF 0.0003122 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50197190G>A , CM000679.2:g.50197190G>A GRCh38
NC_000017.10:g.48274551G>A , CM000679.1:g.48274551G>A GRCh37
NC_000017.9:g.45629550G>A NCBI36
NG_007400.1:g.9450C>T , LRG_1:g.9450C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.740C>T MANE Select ENSP00000225964.6:p.Pro247Leu
ENST00000225964.9:c.740C>T ENSP00000225964.5:p.Pro247Leu
ENST00000495677.1:n.467C>T
NM_000088.3:c.740C>T , LRG_1t1:c.740C>T NP_000079.2:p.Pro247Leu
XM_005257058.3:c.740C>T XP_005257115.2:p.Pro247Leu
XM_005257059.3:c.740C>T XP_005257116.2:p.Pro247Leu
XM_011524341.1:c.740C>T XP_011522643.1:p.Pro247Leu
XM_005257058.4:c.740C>T XP_005257115.2:p.Pro247Leu
XM_005257059.4:c.740C>T XP_005257116.2:p.Pro247Leu
NM_000088.4:c.740C>T MANE Select NP_000079.2:p.Pro247Leu
Search 100 bp 5'
Search 100 bp 3'