Canonical Allele Identifier: CA8645003
Gene: COL1A1 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.50192533A>G
GRCh37 chr17:g.48269894A>G
gnomAD v2:
17:48269894 A / G
gnomAD v3:
17:50192533 A / G
gnomAD v4:
chr17-50192533-A-G
Joint Max Group AF 0.00009774 (NFE)
Genomes Max Group AF 0.00001171 (NFE)
Exomes Max Group AF 0.00010107 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50192533A>G , CM000679.2:g.50192533A>G GRCh38
NC_000017.10:g.48269894A>G , CM000679.1:g.48269894A>G GRCh37
NC_000017.9:g.45624893A>G NCBI36
NG_007400.1:g.14107T>C , LRG_1:g.14107T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.1930-5T>C MANE Select ENSP00000225964.6:n.1930-5T>C
ENST00000225964.9:c.1930-5T>C ENSP00000225964.5:n.1930-5T>C
ENST00000476387.1:n.279-5T>C
NM_000088.3:c.1930-5T>C , LRG_1t1:c.1930-5T>C NP_000079.2:n.1930-5T>C
XM_005257058.3:c.1930-5T>C XP_005257115.2:n.1930-5T>C
XM_005257059.3:c.1012-5T>C XP_005257116.2:n.1012-5T>C
XM_011524341.1:c.1732-5T>C XP_011522643.1:n.1732-5T>C
XM_005257058.4:c.1930-5T>C XP_005257115.2:n.1930-5T>C
XM_005257059.4:c.1012-5T>C XP_005257116.2:n.1012-5T>C
NM_000088.4:c.1930-5T>C MANE Select NP_000079.2:n.1930-5T>C
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