Canonical Allele Identifier: CA400192125

Gene: COL1A1

Linked Data

• dbSNP Id: rs1324872764
• gnomAD v2: 17-48263270-T-C
• gnomAD v4: 17-50185909-T-C
• MyVariant Identifiers: chr17:g.48263270T>C (hg19) ; chr17:g.50185909T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185909T>C , CM000679.2:g.50185909T>C	GRCh38
NC_000017.10:g.48263270T>C , CM000679.1:g.48263270T>C	GRCh37
NC_000017.9:g.45618269T>C	NCBI36
NG_007400.1:g.20731A>G , LRG_1:g.20731A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4117A>G MANE Select	ENSP00000225964.6:p.Ser1373Gly
ENST00000225964.9:c.4117A>G	ENSP00000225964.5:p.Ser1373Gly
ENST00000510710.3:n.1082A>G
NM_000088.3:c.4117A>G , LRG_1t1:c.4117A>G	NP_000079.2:p.Ser1373Gly
XM_005257058.3:c.3847A>G	XP_005257115.2:p.Ser1283Gly
XM_005257059.3:c.3199A>G	XP_005257116.2:p.Ser1067Gly
XM_011524341.1:c.3919A>G	XP_011522643.1:p.Ser1307Gly
XM_005257058.4:c.3847A>G	XP_005257115.2:p.Ser1283Gly
XM_005257059.4:c.3199A>G	XP_005257116.2:p.Ser1067Gly
NM_000088.4:c.4117A>G MANE Select	NP_000079.2:p.Ser1373Gly