Canonical Allele Identifier: CA400190195

Gene: COL1A1

Linked Data

• gnomAD v4: 17-50185552-C-T
• MyVariant Identifiers: chr17:g.48262913C>T (hg19) ; chr17:g.50185552C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185552C>T , CM000679.2:g.50185552C>T	GRCh38
NC_000017.10:g.48262913C>T , CM000679.1:g.48262913C>T	GRCh37
NC_000017.9:g.45617912C>T	NCBI36
NG_007400.1:g.21088G>A , LRG_1:g.21088G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4345G>A MANE Select	ENSP00000225964.6:p.Ala1449Thr
ENST00000225964.9:c.4345G>A	ENSP00000225964.5:p.Ala1449Thr
NM_000088.3:c.4345G>A , LRG_1t1:c.4345G>A	NP_000079.2:p.Ala1449Thr
XM_005257058.3:c.4075G>A	XP_005257115.2:p.Ala1359Thr
XM_005257059.3:c.3427G>A	XP_005257116.2:p.Ala1143Thr
XM_011524341.1:c.4147G>A	XP_011522643.1:p.Ala1383Thr
XM_005257058.4:c.4075G>A	XP_005257115.2:p.Ala1359Thr
XM_005257059.4:c.3427G>A	XP_005257116.2:p.Ala1143Thr
NM_000088.4:c.4345G>A MANE Select	NP_000079.2:p.Ala1449Thr