Canonical Allele Identifier: CA500991668

Gene: COL1A1

Linked Data

• dbSNP Id: rs1906463638
• gnomAD v4: 17-50185862-C-A
• MyVariant Identifiers: chr17:g.48263223C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185862C>A , CM000679.2:g.50185862C>A	GRCh38
NC_000017.10:g.48263223C>A , CM000679.1:g.48263223C>A	GRCh37
NC_000017.9:g.45618222C>A	NCBI36
NG_007400.1:g.20778G>T , LRG_1:g.20778G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4164G>T MANE Select	ENSP00000225964.6:p.Leu1388=
ENST00000225964.9:c.4164G>T	ENSP00000225964.5:p.Leu1388=
ENST00000510710.3:n.1129G>T
NM_000088.3:c.4164G>T , LRG_1t1:c.4164G>T	NP_000079.2:p.Leu1388=
XM_005257058.3:c.3894G>T	XP_005257115.2:p.Leu1298=
XM_005257059.3:c.3246G>T	XP_005257116.2:p.Leu1082=
XM_011524341.1:c.3966G>T	XP_011522643.1:p.Leu1322=
XM_005257058.4:c.3894G>T	XP_005257115.2:p.Leu1298=
XM_005257059.4:c.3246G>T	XP_005257116.2:p.Leu1082=
NM_000088.4:c.4164G>T MANE Select	NP_000079.2:p.Leu1388=