Canonical Allele Identifier: CA291542744
Gene: COL1A1 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.50185414A>T
GRCh37 chr17:g.48262775A>T
gnomAD v2:
17:48262775 A / T
gnomAD v3:
17:50185414 A / T
gnomAD v4:
chr17-50185414-A-T
Joint Max Group AF 0.02433862 (NFE)
Genomes Max Group AF 0.02231904 (NFE)
Exomes Max Group AF 0.02441845 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50185414A>T , CM000679.2:g.50185414A>T GRCh38
NC_000017.10:g.48262775A>T , CM000679.1:g.48262775A>T GRCh37
NC_000017.9:g.45617774A>T NCBI36
NG_007400.1:g.21226T>A , LRG_1:g.21226T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.*88T>A MANE Select ENSP00000225964.6:n.*88T>A
ENST00000225964.9:c.*88T>A ENSP00000225964.5:n.*88T>A
NM_000088.3:c.*88T>A , LRG_1t1:c.*88T>A NP_000079.2:n.*88T>A
XM_005257058.3:c.*88T>A XP_005257115.2:n.*88T>A
XM_005257059.3:c.*88T>A XP_005257116.2:n.*88T>A
XM_011524341.1:c.*88T>A XP_011522643.1:n.*88T>A
XM_005257058.4:c.*88T>A XP_005257115.2:n.*88T>A
XM_005257059.4:c.*88T>A XP_005257116.2:n.*88T>A
NM_000088.4:c.*88T>A MANE Select NP_000079.2:n.*88T>A
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