Canonical Allele Identifier: CA400215221

Gene: COL1A1

Linked Data

• gnomAD v4: 17-50193966-A-C
• MyVariant Identifiers: chr17:g.48271327A>C (hg19) ; chr17:g.50193966A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50193966A>C , CM000679.2:g.50193966A>C	GRCh38
NC_000017.10:g.48271327A>C , CM000679.1:g.48271327A>C	GRCh37
NC_000017.9:g.45626326A>C	NCBI36
NG_007400.1:g.12674T>G , LRG_1:g.12674T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1744T>G MANE Select	ENSP00000225964.6:p.Phe582Val
ENST00000225964.9:c.1744T>G	ENSP00000225964.5:p.Phe582Val
ENST00000463440.1:n.134T>G
ENST00000471344.1:n.776T>G
ENST00000476387.1:n.93T>G
NM_000088.3:c.1744T>G , LRG_1t1:c.1744T>G	NP_000079.2:p.Phe582Val
XM_005257058.3:c.1744T>G	XP_005257115.2:p.Phe582Val
XM_005257059.3:c.958-1273T>G	XP_005257116.2:n.958-1273T>G
XM_011524341.1:c.1546T>G	XP_011522643.1:p.Phe516Val
XM_005257058.4:c.1744T>G	XP_005257115.2:p.Phe582Val
XM_005257059.4:c.958-1273T>G	XP_005257116.2:n.958-1273T>G
NM_000088.4:c.1744T>G MANE Select	NP_000079.2:p.Phe582Val