Canonical Allele Identifier: CA8644516
Gene: COL1A1 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.50188120G>T
GRCh37 chr17:g.48265481G>T
gnomAD v2:
17:48265481 G / T
gnomAD v3:
17:50188120 G / T
gnomAD v4:
chr17-50188120-G-T
Joint Max Group AF 0.00026918 (NFE)
Genomes Max Group AF 0.0000325 (AFR)
Exomes Max Group AF 0.00028352 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50188120G>T , CM000679.2:g.50188120G>T GRCh38
NC_000017.10:g.48265481G>T , CM000679.1:g.48265481G>T GRCh37
NC_000017.9:g.45620480G>T NCBI36
NG_007400.1:g.18520C>A , LRG_1:g.18520C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.3237C>A MANE Select ENSP00000225964.6:p.Gly1079=
ENST00000225964.9:c.3237C>A ENSP00000225964.5:p.Gly1079=
ENST00000486572.1:n.435C>A
ENST00000511732.1:n.561C>A
NM_000088.3:c.3237C>A , LRG_1t1:c.3237C>A NP_000079.2:p.Gly1079=
XM_005257058.3:c.2967C>A XP_005257115.2:p.Gly989=
XM_005257059.3:c.2319C>A XP_005257116.2:p.Gly773=
XM_011524341.1:c.3039C>A XP_011522643.1:p.Gly1013=
XM_005257058.4:c.2967C>A XP_005257115.2:p.Gly989=
XM_005257059.4:c.2319C>A XP_005257116.2:p.Gly773=
NM_000088.4:c.3237C>A MANE Select NP_000079.2:p.Gly1079=
Search 100 bp 5'
Search 100 bp 3'