Canonical Allele Identifier: CA400191495

Gene: COL1A1

Linked Data

• gnomAD v4: 17-50185809-A-T
• MyVariant Identifiers: chr17:g.48263170A>T (hg19) ; chr17:g.50185809A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185809A>T , CM000679.2:g.50185809A>T	GRCh38
NC_000017.10:g.48263170A>T , CM000679.1:g.48263170A>T	GRCh37
NC_000017.9:g.45618169A>T	NCBI36
NG_007400.1:g.20831T>A , LRG_1:g.20831T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4217T>A MANE Select	ENSP00000225964.6:p.Phe1406Tyr
ENST00000225964.9:c.4217T>A	ENSP00000225964.5:p.Phe1406Tyr
NM_000088.3:c.4217T>A , LRG_1t1:c.4217T>A	NP_000079.2:p.Phe1406Tyr
XM_005257058.3:c.3947T>A	XP_005257115.2:p.Phe1316Tyr
XM_005257059.3:c.3299T>A	XP_005257116.2:p.Phe1100Tyr
XM_011524341.1:c.4019T>A	XP_011522643.1:p.Phe1340Tyr
XM_005257058.4:c.3947T>A	XP_005257115.2:p.Phe1316Tyr
XM_005257059.4:c.3299T>A	XP_005257116.2:p.Phe1100Tyr
NM_000088.4:c.4217T>A MANE Select	NP_000079.2:p.Phe1406Tyr