Canonical Allele Identifier: CA400191299

Gene: COL1A1

Linked Data

• dbSNP Id: rs1430083182
• gnomAD v2: 17-48263155-G-A
• gnomAD v4: 17-50185794-G-A
• MyVariant Identifiers: chr17:g.48263155G>A (hg19) ; chr17:g.50185794G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185794G>A , CM000679.2:g.50185794G>A	GRCh38
NC_000017.10:g.48263155G>A , CM000679.1:g.48263155G>A	GRCh37
NC_000017.9:g.45618154G>A	NCBI36
NG_007400.1:g.20846C>T , LRG_1:g.20846C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4232C>T MANE Select	ENSP00000225964.6:p.Thr1411Ile
ENST00000225964.9:c.4232C>T	ENSP00000225964.5:p.Thr1411Ile
NM_000088.3:c.4232C>T , LRG_1t1:c.4232C>T	NP_000079.2:p.Thr1411Ile
XM_005257058.3:c.3962C>T	XP_005257115.2:p.Thr1321Ile
XM_005257059.3:c.3314C>T	XP_005257116.2:p.Thr1105Ile
XM_011524341.1:c.4034C>T	XP_011522643.1:p.Thr1345Ile
XM_005257058.4:c.3962C>T	XP_005257115.2:p.Thr1321Ile
XM_005257059.4:c.3314C>T	XP_005257116.2:p.Thr1105Ile
NM_000088.4:c.4232C>T MANE Select	NP_000079.2:p.Thr1411Ile