Canonical Allele Identifier: CA500844400

Gene: COL1A1

Linked Data

• MyVariant Identifiers: chr17:g.48265924G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50188563G>T , CM000679.2:g.50188563G>T	GRCh38
NC_000017.10:g.48265924G>T , CM000679.1:g.48265924G>T	GRCh37
NC_000017.9:g.45620923G>T	NCBI36
NG_007400.1:g.18077C>A , LRG_1:g.18077C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.3174C>A MANE Select	ENSP00000225964.6:p.Gly1058=
ENST00000225964.9:c.3174C>A	ENSP00000225964.5:p.Gly1058=
ENST00000511732.1:n.118C>A
NM_000088.3:c.3174C>A , LRG_1t1:c.3174C>A	NP_000079.2:p.Gly1058=
XM_005257058.3:c.2904C>A	XP_005257115.2:p.Gly968=
XM_005257059.3:c.2256C>A	XP_005257116.2:p.Gly752=
XM_011524341.1:c.2976C>A	XP_011522643.1:p.Gly992=
XM_005257058.4:c.2904C>A	XP_005257115.2:p.Gly968=
XM_005257059.4:c.2256C>A	XP_005257116.2:p.Gly752=
NM_000088.4:c.3174C>A MANE Select	NP_000079.2:p.Gly1058=