Canonical Allele Identifier: CA8645027

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 2632580
• ClinVar RCV Id: RCV004550792
• dbSNP Id: rs765449262
• ExAC: 17:48270051 G / A
• gnomAD v2: 17-48270051-G-A
• gnomAD v3: 17-50192690-G-A
• gnomAD v4: 17-50192690-G-A
• MyVariant Identifiers: chr17:g.48270051G>A (hg19) ; chr17:g.50192690G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50192690G>A , CM000679.2:g.50192690G>A	GRCh38
NC_000017.10:g.48270051G>A , CM000679.1:g.48270051G>A	GRCh37
NC_000017.9:g.45625050G>A	NCBI36
NG_007400.1:g.13950C>T , LRG_1:g.13950C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1879C>T MANE Select	ENSP00000225964.6:p.Pro627Ser
ENST00000225964.9:c.1879C>T	ENSP00000225964.5:p.Pro627Ser
ENST00000476387.1:n.228C>T
NM_000088.3:c.1879C>T , LRG_1t1:c.1879C>T	NP_000079.2:p.Pro627Ser
XM_005257058.3:c.1879C>T	XP_005257115.2:p.Pro627Ser
XM_005257059.3:c.961C>T	XP_005257116.2:p.Pro321Ser
XM_011524341.1:c.1681C>T	XP_011522643.1:p.Pro561Ser
XM_005257058.4:c.1879C>T	XP_005257115.2:p.Pro627Ser
XM_005257059.4:c.961C>T	XP_005257116.2:p.Pro321Ser
NM_000088.4:c.1879C>T MANE Select	NP_000079.2:p.Pro627Ser