Canonical Allele Identifier: CA400213632

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 1311435
• ClinVar RCV Id: RCV001752418
• dbSNP Id: rs773957707
• gnomAD v3: 17-50192644-A-T
• gnomAD v4: 17-50192644-A-T
• MyVariant Identifiers: chr17:g.48270005A>T (hg19) ; chr17:g.50192644A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50192644A>T , CM000679.2:g.50192644A>T	GRCh38
NC_000017.10:g.48270005A>T , CM000679.1:g.48270005A>T	GRCh37
NC_000017.9:g.45625004A>T	NCBI36
NG_007400.1:g.13996T>A , LRG_1:g.13996T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1925T>A MANE Select	ENSP00000225964.6:p.Phe642Tyr
ENST00000225964.9:c.1925T>A	ENSP00000225964.5:p.Phe642Tyr
ENST00000476387.1:n.274T>A
NM_000088.3:c.1925T>A , LRG_1t1:c.1925T>A	NP_000079.2:p.Phe642Tyr
XM_005257058.3:c.1925T>A	XP_005257115.2:p.Phe642Tyr
XM_005257059.3:c.1007T>A	XP_005257116.2:p.Phe336Tyr
XM_011524341.1:c.1727T>A	XP_011522643.1:p.Phe576Tyr
XM_005257058.4:c.1925T>A	XP_005257115.2:p.Phe642Tyr
XM_005257059.4:c.1007T>A	XP_005257116.2:p.Phe336Tyr
NM_000088.4:c.1925T>A MANE Select	NP_000079.2:p.Phe642Tyr