Canonical Allele Identifier: CA2638683257

Gene: COL1A1

Linked Data

• gnomAD v4: 17-50199386-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50199386C>T , CM000679.2:g.50199386C>T	GRCh38
NC_000017.10:g.48276747C>T , CM000679.1:g.48276747C>T	GRCh37
NC_000017.9:g.45631746C>T	NCBI36
NG_007400.1:g.7254G>A , LRG_1:g.7254G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.369+32G>A MANE Select	ENSP00000225964.6:n.369+32G>A
ENST00000225964.9:c.369+32G>A	ENSP00000225964.5:n.369+32G>A
ENST00000474644.1:n.590+32G>A
ENST00000507689.1:c.423+32G>A	ENSP00000460459.1:n.423+32G>A
NM_000088.3:c.369+32G>A , LRG_1t1:c.369+32G>A	NP_000079.2:n.369+32G>A
XM_005257058.3:c.369+32G>A	XP_005257115.2:n.369+32G>A
XM_005257059.3:c.369+32G>A	XP_005257116.2:n.369+32G>A
XM_011524341.1:c.369+32G>A	XP_011522643.1:n.369+32G>A
XM_005257058.4:c.369+32G>A	XP_005257115.2:n.369+32G>A
XM_005257059.4:c.369+32G>A	XP_005257116.2:n.369+32G>A
NM_000088.4:c.369+32G>A MANE Select	NP_000079.2:n.369+32G>A