Canonical Allele Identifier: CA2638708255

Gene: COL1A1

Linked Data

• gnomAD v4: 17-50188059-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50188059A>C , CM000679.2:g.50188059A>C	GRCh38
NC_000017.10:g.48265420A>C , CM000679.1:g.48265420A>C	GRCh37
NC_000017.9:g.45620419A>C	NCBI36
NG_007400.1:g.18581T>G , LRG_1:g.18581T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.3261+37T>G MANE Select	ENSP00000225964.6:n.3261+37T>G
ENST00000225964.9:c.3261+37T>G	ENSP00000225964.5:n.3261+37T>G
ENST00000486572.1:n.459+37T>G
ENST00000511732.1:n.622T>G
NM_000088.3:c.3261+37T>G , LRG_1t1:c.3261+37T>G	NP_000079.2:n.3261+37T>G
XM_005257058.3:c.2991+37T>G	XP_005257115.2:n.2991+37T>G
XM_005257059.3:c.2343+37T>G	XP_005257116.2:n.2343+37T>G
XM_011524341.1:c.3063+37T>G	XP_011522643.1:n.3063+37T>G
XM_005257058.4:c.2991+37T>G	XP_005257115.2:n.2991+37T>G
XM_005257059.4:c.2343+37T>G	XP_005257116.2:n.2343+37T>G
NM_000088.4:c.3261+37T>G MANE Select	NP_000079.2:n.3261+37T>G