Canonical Allele Identifier: CA500852212

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 1735234
• ClinVar RCV Id: RCV002355307
• gnomAD v4: 17-50199316-G-C
• MyVariant Identifiers: chr17:g.48276677G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50199316G>C , CM000679.2:g.50199316G>C	GRCh38
NC_000017.10:g.48276677G>C , CM000679.1:g.48276677G>C	GRCh37
NC_000017.9:g.45631676G>C	NCBI36
NG_007400.1:g.7324C>G , LRG_1:g.7324C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.381C>G MANE Select	ENSP00000225964.6:p.Gly127=
ENST00000225964.9:c.381C>G	ENSP00000225964.5:p.Gly127=
ENST00000474644.1:n.602C>G
ENST00000507689.1:c.435C>G	ENSP00000460459.1:p.Gly145=
NM_000088.3:c.381C>G , LRG_1t1:c.381C>G	NP_000079.2:p.Gly127=
XM_005257058.3:c.381C>G	XP_005257115.2:p.Gly127=
XM_005257059.3:c.381C>G	XP_005257116.2:p.Gly127=
XM_011524341.1:c.381C>G	XP_011522643.1:p.Gly127=
XM_005257058.4:c.381C>G	XP_005257115.2:p.Gly127=
XM_005257059.4:c.381C>G	XP_005257116.2:p.Gly127=
NM_000088.4:c.381C>G MANE Select	NP_000079.2:p.Gly127=