Canonical Allele Identifier: CA8645703
Gene: COL1A1 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.50199289T>C
GRCh37 chr17:g.48276650T>C
gnomAD v2:
17:48276650 T / C
gnomAD v3:
17:50199289 T / C
gnomAD v4:
chr17-50199289-T-C
Joint Max Group AF 0.00069821 (EAS)
Genomes Max Group AF 0.00134797 (EAS)
Exomes Max Group AF 0.00051156 (EAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50199289T>C , CM000679.2:g.50199289T>C GRCh38
NC_000017.10:g.48276650T>C , CM000679.1:g.48276650T>C GRCh37
NC_000017.9:g.45631649T>C NCBI36
NG_007400.1:g.7351A>G , LRG_1:g.7351A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.408A>G MANE Select ENSP00000225964.6:p.Gly136=
ENST00000225964.9:c.408A>G ENSP00000225964.5:p.Gly136=
ENST00000474644.1:n.629A>G
ENST00000507689.1:c.462A>G ENSP00000460459.1:p.Gly154=
NM_000088.3:c.408A>G , LRG_1t1:c.408A>G NP_000079.2:p.Gly136=
XM_005257058.3:c.408A>G XP_005257115.2:p.Gly136=
XM_005257059.3:c.408A>G XP_005257116.2:p.Gly136=
XM_011524341.1:c.408A>G XP_011522643.1:p.Gly136=
XM_005257058.4:c.408A>G XP_005257115.2:p.Gly136=
XM_005257059.4:c.408A>G XP_005257116.2:p.Gly136=
NM_000088.4:c.408A>G MANE Select NP_000079.2:p.Gly136=
Search 100 bp 5'
Search 100 bp 3'