Canonical Allele Identifier: CA260267
Gene: COL1A1 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.50195937C>T
GRCh37 chr17:g.48273298C>T
Revel Score:
ENST00000225964 (MANE Select) 0.329
gnomAD v2:
17:48273298 C / T
gnomAD v3:
17:50195937 C / T
gnomAD v4:
chr17-50195937-C-T
Joint Max Group AF 0.00052515 (NFE)
Genomes Max Group AF 0.00030418 (NFE)
Exomes Max Group AF 0.00053217 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50195937C>T , CM000679.2:g.50195937C>T GRCh38
NC_000017.10:g.48273298C>T , CM000679.1:g.48273298C>T GRCh37
NC_000017.9:g.45628297C>T NCBI36
NG_007400.1:g.10703G>A , LRG_1:g.10703G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.1042G>A MANE Select ENSP00000225964.6:p.Ala348Thr
ENST00000225964.9:c.1042G>A ENSP00000225964.5:p.Ala348Thr
NM_000088.3:c.1042G>A , LRG_1t1:c.1042G>A NP_000079.2:p.Ala348Thr
XM_005257058.3:c.1042G>A XP_005257115.2:p.Ala348Thr
XM_005257059.3:c.957+377G>A XP_005257116.2:n.957+377G>A
XM_011524341.1:c.957+377G>A XP_011522643.1:n.957+377G>A
XM_005257058.4:c.1042G>A XP_005257115.2:p.Ala348Thr
XM_005257059.4:c.957+377G>A XP_005257116.2:n.957+377G>A
NM_000088.4:c.1042G>A MANE Select NP_000079.2:p.Ala348Thr
Search 100 bp 5'
Search 100 bp 3'