Canonical Allele Identifier: CA8644271
Gene: COL1A1 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.50186008C>T
GRCh37 chr17:g.48263369C>T
Revel Score:
ENST00000225964 (MANE Select) 0.707
gnomAD v2:
17:48263369 C / T
gnomAD v3:
17:50186008 C / T
gnomAD v4:
chr17-50186008-C-T
Joint Max Group AF 0.00077671 (NFE)
Genomes Max Group AF 0.00048194 (NFE)
Exomes Max Group AF 0.00078735 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50186008C>T , CM000679.2:g.50186008C>T GRCh38
NC_000017.10:g.48263369C>T , CM000679.1:g.48263369C>T GRCh37
NC_000017.9:g.45618368C>T NCBI36
NG_007400.1:g.20632G>A , LRG_1:g.20632G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.4018G>A MANE Select ENSP00000225964.6:p.Gly1340Ser
ENST00000225964.9:c.4018G>A ENSP00000225964.5:p.Gly1340Ser
ENST00000510710.3:n.983G>A
NM_000088.3:c.4018G>A , LRG_1t1:c.4018G>A NP_000079.2:p.Gly1340Ser
XM_005257058.3:c.3748G>A XP_005257115.2:p.Gly1250Ser
XM_005257059.3:c.3100G>A XP_005257116.2:p.Gly1034Ser
XM_011524341.1:c.3820G>A XP_011522643.1:p.Gly1274Ser
XM_005257058.4:c.3748G>A XP_005257115.2:p.Gly1250Ser
XM_005257059.4:c.3100G>A XP_005257116.2:p.Gly1034Ser
NM_000088.4:c.4018G>A MANE Select NP_000079.2:p.Gly1340Ser
Search 100 bp 5'
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