Canonical Allele Identifier: CA626486287

Gene: COL1A1

Linked Data

• dbSNP Id: rs1341476089
• gnomAD v2: 17-48276698-G-C
• MyVariant Identifiers: chr17:g.48276698G>C (hg19) ; chr17:g.50199337G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50199337G>C , CM000679.2:g.50199337G>C	GRCh38
NC_000017.10:g.48276698G>C , CM000679.1:g.48276698G>C	GRCh37
NC_000017.9:g.45631697G>C	NCBI36
NG_007400.1:g.7303C>G , LRG_1:g.7303C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000225964.10:c.370-10C>G MANE Select	ENSP00000225964.6:n.370-10C>G
ENST00000225964.9:c.370-10C>G	ENSP00000225964.5:n.370-10C>G
ENST00000474644.1:n.591-10C>G
ENST00000507689.1:c.424-10C>G	ENSP00000460459.1:n.424-10C>G
NM_000088.3:c.370-10C>G , LRG_1t1:c.370-10C>G	NP_000079.2:n.370-10C>G
XM_005257058.3:c.370-10C>G	XP_005257115.2:n.370-10C>G
XM_005257059.3:c.370-10C>G	XP_005257116.2:n.370-10C>G
XM_011524341.1:c.370-10C>G	XP_011522643.1:n.370-10C>G
XM_005257058.4:c.370-10C>G	XP_005257115.2:n.370-10C>G
XM_005257059.4:c.370-10C>G	XP_005257116.2:n.370-10C>G
NM_000088.4:c.370-10C>G MANE Select	NP_000079.2:n.370-10C>G