Canonical Allele Identifier: CA291542799

Gene: COL1A1

Linked Data

• dbSNP Id: rs780049218
• gnomAD v2: 17-48263253-G-A
• gnomAD v3: 17-50185892-G-A
• gnomAD v4: 17-50185892-G-A
• MyVariant Identifiers: chr17:g.48263253G>A (hg19) ; chr17:g.50185892G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185892G>A , CM000679.2:g.50185892G>A	GRCh38
NC_000017.10:g.48263253G>A , CM000679.1:g.48263253G>A	GRCh37
NC_000017.9:g.45618252G>A	NCBI36
NG_007400.1:g.20748C>T , LRG_1:g.20748C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4134C>T MANE Select	ENSP00000225964.6:p.Asp1378=
ENST00000225964.9:c.4134C>T	ENSP00000225964.5:p.Asp1378=
ENST00000510710.3:n.1099C>T
NM_000088.3:c.4134C>T , LRG_1t1:c.4134C>T	NP_000079.2:p.Asp1378=
XM_005257058.3:c.3864C>T	XP_005257115.2:p.Asp1288=
XM_005257059.3:c.3216C>T	XP_005257116.2:p.Asp1072=
XM_011524341.1:c.3936C>T	XP_011522643.1:p.Asp1312=
XM_005257058.4:c.3864C>T	XP_005257115.2:p.Asp1288=
XM_005257059.4:c.3216C>T	XP_005257116.2:p.Asp1072=
NM_000088.4:c.4134C>T MANE Select	NP_000079.2:p.Asp1378=