Canonical Allele Identifier: CA291542791

Gene: COL1A1

Linked Data

• dbSNP Id: rs1046079035
• gnomAD v4: 17-50185817-G-A
• MyVariant Identifiers: chr17:g.48263178G>A (hg19) ; chr17:g.50185817G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185817G>A , CM000679.2:g.50185817G>A	GRCh38
NC_000017.10:g.48263178G>A , CM000679.1:g.48263178G>A	GRCh37
NC_000017.9:g.45618177G>A	NCBI36
NG_007400.1:g.20823C>T , LRG_1:g.20823C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4209C>T MANE Select	ENSP00000225964.6:p.Asn1403=
ENST00000225964.9:c.4209C>T	ENSP00000225964.5:p.Asn1403=
NM_000088.3:c.4209C>T , LRG_1t1:c.4209C>T	NP_000079.2:p.Asn1403=
XM_005257058.3:c.3939C>T	XP_005257115.2:p.Asn1313=
XM_005257059.3:c.3291C>T	XP_005257116.2:p.Asn1097=
XM_011524341.1:c.4011C>T	XP_011522643.1:p.Asn1337=
XM_005257058.4:c.3939C>T	XP_005257115.2:p.Asn1313=
XM_005257059.4:c.3291C>T	XP_005257116.2:p.Asn1097=
NM_000088.4:c.4209C>T MANE Select	NP_000079.2:p.Asn1403=