Canonical Allele Identifier: CA500991394

Gene: COL1A1

Linked Data

• MyVariant Identifiers: chr17:g.48262947C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185586C>T , CM000679.2:g.50185586C>T	GRCh38
NC_000017.10:g.48262947C>T , CM000679.1:g.48262947C>T	GRCh37
NC_000017.9:g.45617946C>T	NCBI36
NG_007400.1:g.21054G>A , LRG_1:g.21054G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4311G>A MANE Select	ENSP00000225964.6:p.Leu1437=
ENST00000225964.9:c.4311G>A	ENSP00000225964.5:p.Leu1437=
NM_000088.3:c.4311G>A , LRG_1t1:c.4311G>A	NP_000079.2:p.Leu1437=
XM_005257058.3:c.4041G>A	XP_005257115.2:p.Leu1347=
XM_005257059.3:c.3393G>A	XP_005257116.2:p.Leu1131=
XM_011524341.1:c.4113G>A	XP_011522643.1:p.Leu1371=
XM_005257058.4:c.4041G>A	XP_005257115.2:p.Leu1347=
XM_005257059.4:c.3393G>A	XP_005257116.2:p.Leu1131=
NM_000088.4:c.4311G>A MANE Select	NP_000079.2:p.Leu1437=