Canonical Allele Identifier: CA244807
Gene: COL1A1 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.50190052G>A
GRCh37 chr17:g.48267413G>A
gnomAD v2:
17:48267413 G / A
gnomAD v3:
17:50190052 G / A
gnomAD v4:
chr17-50190052-G-A
Joint Max Group AF 0.00003518 (AFR)
Genomes Max Group AF 0.0000483 (NFE)
Exomes Max Group AF 0.0000436 (AMR)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50190052G>A , CM000679.2:g.50190052G>A GRCh38
NC_000017.10:g.48267413G>A , CM000679.1:g.48267413G>A GRCh37
NC_000017.9:g.45622412G>A NCBI36
NG_007400.1:g.16588C>T , LRG_1:g.16588C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.2508C>T MANE Select ENSP00000225964.6:p.Gly836=
ENST00000225964.9:c.2508C>T ENSP00000225964.5:p.Gly836=
NM_000088.3:c.2508C>T , LRG_1t1:c.2508C>T NP_000079.2:p.Gly836=
XM_005257058.3:c.2508C>T XP_005257115.2:p.Gly836=
XM_005257059.3:c.1590C>T XP_005257116.2:p.Gly530=
XM_011524341.1:c.2310C>T XP_011522643.1:p.Gly770=
XM_005257058.4:c.2508C>T XP_005257115.2:p.Gly836=
XM_005257059.4:c.1590C>T XP_005257116.2:p.Gly530=
NM_000088.4:c.2508C>T MANE Select NP_000079.2:p.Gly836=
Search 100 bp 5'
Search 100 bp 3'