Canonical Allele Identifier: CA400191806

Gene: COL1A1

Linked Data

• dbSNP Id: rs1238848569
• gnomAD v2: 17-48263225-G-C
• gnomAD v4: 17-50185864-G-C
• MyVariant Identifiers: chr17:g.48263225G>C (hg19) ; chr17:g.50185864G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185864G>C , CM000679.2:g.50185864G>C	GRCh38
NC_000017.10:g.48263225G>C , CM000679.1:g.48263225G>C	GRCh37
NC_000017.9:g.45618224G>C	NCBI36
NG_007400.1:g.20776C>G , LRG_1:g.20776C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4162C>G MANE Select	ENSP00000225964.6:p.Leu1388Val
ENST00000225964.9:c.4162C>G	ENSP00000225964.5:p.Leu1388Val
ENST00000510710.3:n.1127C>G
NM_000088.3:c.4162C>G , LRG_1t1:c.4162C>G	NP_000079.2:p.Leu1388Val
XM_005257058.3:c.3892C>G	XP_005257115.2:p.Leu1298Val
XM_005257059.3:c.3244C>G	XP_005257116.2:p.Leu1082Val
XM_011524341.1:c.3964C>G	XP_011522643.1:p.Leu1322Val
XM_005257058.4:c.3892C>G	XP_005257115.2:p.Leu1298Val
XM_005257059.4:c.3244C>G	XP_005257116.2:p.Leu1082Val
NM_000088.4:c.4162C>G MANE Select	NP_000079.2:p.Leu1388Val