Canonical Allele Identifier: CA203157
Gene: COL1A1 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.50185660C>T
GRCh37 chr17:g.48263021C>T
gnomAD v2:
17:48263021 C / T
gnomAD v3:
17:50185660 C / T
gnomAD v4:
chr17-50185660-C-T
Joint Max Group AF 0.65970669 (AMR)
Genomes Max Group AF 0.63726805 (AMR)
Exomes Max Group AF 0.66469081 (AMR)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50185660C>T , CM000679.2:g.50185660C>T GRCh38
NC_000017.10:g.48263021C>T , CM000679.1:g.48263021C>T GRCh37
NC_000017.9:g.45618020C>T NCBI36
NG_007400.1:g.20980G>A , LRG_1:g.20980G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.4249-12G>A MANE Select ENSP00000225964.6:n.4249-12G>A
ENST00000225964.9:c.4249-12G>A ENSP00000225964.5:n.4249-12G>A
NM_000088.3:c.4249-12G>A , LRG_1t1:c.4249-12G>A NP_000079.2:n.4249-12G>A
XM_005257058.3:c.3979-12G>A XP_005257115.2:n.3979-12G>A
XM_005257059.3:c.3331-12G>A XP_005257116.2:n.3331-12G>A
XM_011524341.1:c.4051-12G>A XP_011522643.1:n.4051-12G>A
XM_005257058.4:c.3979-12G>A XP_005257115.2:n.3979-12G>A
XM_005257059.4:c.3331-12G>A XP_005257116.2:n.3331-12G>A
NM_000088.4:c.4249-12G>A MANE Select NP_000079.2:n.4249-12G>A
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