Canonical Allele Identifier: CA500991690

Gene: COL1A1

Linked Data

• MyVariant Identifiers: chr17:g.48263235G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185874G>T , CM000679.2:g.50185874G>T	GRCh38
NC_000017.10:g.48263235G>T , CM000679.1:g.48263235G>T	GRCh37
NC_000017.9:g.45618234G>T	NCBI36
NG_007400.1:g.20766C>A , LRG_1:g.20766C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4152C>A MANE Select	ENSP00000225964.6:p.Leu1384=
ENST00000225964.9:c.4152C>A	ENSP00000225964.5:p.Leu1384=
ENST00000510710.3:n.1117C>A
NM_000088.3:c.4152C>A , LRG_1t1:c.4152C>A	NP_000079.2:p.Leu1384=
XM_005257058.3:c.3882C>A	XP_005257115.2:p.Leu1294=
XM_005257059.3:c.3234C>A	XP_005257116.2:p.Leu1078=
XM_011524341.1:c.3954C>A	XP_011522643.1:p.Leu1318=
XM_005257058.4:c.3882C>A	XP_005257115.2:p.Leu1294=
XM_005257059.4:c.3234C>A	XP_005257116.2:p.Leu1078=
NM_000088.4:c.4152C>A MANE Select	NP_000079.2:p.Leu1384=