Canonical Allele Identifier: CA626486288

Gene: COL1A1

Linked Data

• dbSNP Id: rs1448237167
• gnomAD v2: 17-48276700-G-A
• gnomAD v4: 17-50199339-G-A
• MyVariant Identifiers: chr17:g.48276700G>A (hg19) ; chr17:g.50199339G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50199339G>A , CM000679.2:g.50199339G>A	GRCh38
NC_000017.10:g.48276700G>A , CM000679.1:g.48276700G>A	GRCh37
NC_000017.9:g.45631699G>A	NCBI36
NG_007400.1:g.7301C>T , LRG_1:g.7301C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000225964.10:c.370-12C>T MANE Select	ENSP00000225964.6:n.370-12C>T
ENST00000225964.9:c.370-12C>T	ENSP00000225964.5:n.370-12C>T
ENST00000474644.1:n.591-12C>T
ENST00000507689.1:c.424-12C>T	ENSP00000460459.1:n.424-12C>T
NM_000088.3:c.370-12C>T , LRG_1t1:c.370-12C>T	NP_000079.2:n.370-12C>T
XM_005257058.3:c.370-12C>T	XP_005257115.2:n.370-12C>T
XM_005257059.3:c.370-12C>T	XP_005257116.2:n.370-12C>T
XM_011524341.1:c.370-12C>T	XP_011522643.1:n.370-12C>T
XM_005257058.4:c.370-12C>T	XP_005257115.2:n.370-12C>T
XM_005257059.4:c.370-12C>T	XP_005257116.2:n.370-12C>T
NM_000088.4:c.370-12C>T MANE Select	NP_000079.2:n.370-12C>T