Canonical Allele Identifier: CA400191639

Gene: COL1A1

Linked Data

• dbSNP Id: rs754194952
• gnomAD v2: 17-48263189-C-T
• gnomAD v4: 17-50185828-C-T
• MyVariant Identifiers: chr17:g.48263189C>T (hg19) ; chr17:g.50185828C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185828C>T , CM000679.2:g.50185828C>T	GRCh38
NC_000017.10:g.48263189C>T , CM000679.1:g.48263189C>T	GRCh37
NC_000017.9:g.45618188C>T	NCBI36
NG_007400.1:g.20812G>A , LRG_1:g.20812G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4198G>A MANE Select	ENSP00000225964.6:p.Ala1400Thr
ENST00000225964.9:c.4198G>A	ENSP00000225964.5:p.Ala1400Thr
NM_000088.3:c.4198G>A , LRG_1t1:c.4198G>A	NP_000079.2:p.Ala1400Thr
XM_005257058.3:c.3928G>A	XP_005257115.2:p.Ala1310Thr
XM_005257059.3:c.3280G>A	XP_005257116.2:p.Ala1094Thr
XM_011524341.1:c.4000G>A	XP_011522643.1:p.Ala1334Thr
XM_005257058.4:c.3928G>A	XP_005257115.2:p.Ala1310Thr
XM_005257059.4:c.3280G>A	XP_005257116.2:p.Ala1094Thr
NM_000088.4:c.4198G>A MANE Select	NP_000079.2:p.Ala1400Thr