Canonical Allele Identifier: CA500991385

Gene: COL1A1

Linked Data

• gnomAD v4: 17-50185580-G-T
• MyVariant Identifiers: chr17:g.48262941G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185580G>T , CM000679.2:g.50185580G>T	GRCh38
NC_000017.10:g.48262941G>T , CM000679.1:g.48262941G>T	GRCh37
NC_000017.9:g.45617940G>T	NCBI36
NG_007400.1:g.21060C>A , LRG_1:g.21060C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4317C>A MANE Select	ENSP00000225964.6:p.Ile1439=
ENST00000225964.9:c.4317C>A	ENSP00000225964.5:p.Ile1439=
NM_000088.3:c.4317C>A , LRG_1t1:c.4317C>A	NP_000079.2:p.Ile1439=
XM_005257058.3:c.4047C>A	XP_005257115.2:p.Ile1349=
XM_005257059.3:c.3399C>A	XP_005257116.2:p.Ile1133=
XM_011524341.1:c.4119C>A	XP_011522643.1:p.Ile1373=
XM_005257058.4:c.4047C>A	XP_005257115.2:p.Ile1349=
XM_005257059.4:c.3399C>A	XP_005257116.2:p.Ile1133=
NM_000088.4:c.4317C>A MANE Select	NP_000079.2:p.Ile1439=