Canonical Allele Identifier: CA291542798

Gene: COL1A1

Linked Data

• dbSNP Id: rs3205509
• gnomAD v4: 17-50185891-G-T
• MyVariant Identifiers: chr17:g.48263252G>T (hg19) ; chr17:g.50185891G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185891G>T , CM000679.2:g.50185891G>T	GRCh38
NC_000017.10:g.48263252G>T , CM000679.1:g.48263252G>T	GRCh37
NC_000017.9:g.45618251G>T	NCBI36
NG_007400.1:g.20749C>A , LRG_1:g.20749C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4135C>A MANE Select	ENSP00000225964.6:p.Gln1379Lys
ENST00000225964.9:c.4135C>A	ENSP00000225964.5:p.Gln1379Lys
ENST00000510710.3:n.1100C>A
NM_000088.3:c.4135C>A , LRG_1t1:c.4135C>A	NP_000079.2:p.Gln1379Lys
XM_005257058.3:c.3865C>A	XP_005257115.2:p.Gln1289Lys
XM_005257059.3:c.3217C>A	XP_005257116.2:p.Gln1073Lys
XM_011524341.1:c.3937C>A	XP_011522643.1:p.Gln1313Lys
XM_005257058.4:c.3865C>A	XP_005257115.2:p.Gln1289Lys
XM_005257059.4:c.3217C>A	XP_005257116.2:p.Gln1073Lys
NM_000088.4:c.4135C>A MANE Select	NP_000079.2:p.Gln1379Lys