Canonical Allele Identifier: CA291542802

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 1737973
• ClinVar RCV Id: RCV002323463
• dbSNP Id: rs987181448
• gnomAD v2: 17-48263268-G-A
• gnomAD v3: 17-50185907-G-A
• gnomAD v4: 17-50185907-G-A
• MyVariant Identifiers: chr17:g.48263268G>A (hg19) ; chr17:g.50185907G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185907G>A , CM000679.2:g.50185907G>A	GRCh38
NC_000017.10:g.48263268G>A , CM000679.1:g.48263268G>A	GRCh37
NC_000017.9:g.45618267G>A	NCBI36
NG_007400.1:g.20733C>T , LRG_1:g.20733C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4119C>T MANE Select	ENSP00000225964.6:p.Ser1373=
ENST00000225964.9:c.4119C>T	ENSP00000225964.5:p.Ser1373=
ENST00000510710.3:n.1084C>T
NM_000088.3:c.4119C>T , LRG_1t1:c.4119C>T	NP_000079.2:p.Ser1373=
XM_005257058.3:c.3849C>T	XP_005257115.2:p.Ser1283=
XM_005257059.3:c.3201C>T	XP_005257116.2:p.Ser1067=
XM_011524341.1:c.3921C>T	XP_011522643.1:p.Ser1307=
XM_005257058.4:c.3849C>T	XP_005257115.2:p.Ser1283=
XM_005257059.4:c.3201C>T	XP_005257116.2:p.Ser1067=
NM_000088.4:c.4119C>T MANE Select	NP_000079.2:p.Ser1373=