Canonical Allele Identifier: CA400207933

Gene: COL1A1

Linked Data

• gnomAD v4: 17-50190340-A-G
• MyVariant Identifiers: chr17:g.48267701A>G (hg19) ; chr17:g.50190340A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50190340A>G , CM000679.2:g.50190340A>G	GRCh38
NC_000017.10:g.48267701A>G , CM000679.1:g.48267701A>G	GRCh37
NC_000017.9:g.45622700A>G	NCBI36
NG_007400.1:g.16300T>C , LRG_1:g.16300T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000225964.10:c.2438T>C MANE Select	ENSP00000225964.6:p.Phe813Ser
ENST00000225964.9:c.2438T>C	ENSP00000225964.5:p.Phe813Ser
ENST00000494334.1:n.365T>C
NM_000088.3:c.2438T>C , LRG_1t1:c.2438T>C	NP_000079.2:p.Phe813Ser
XM_005257058.3:c.2438T>C	XP_005257115.2:p.Phe813Ser
XM_005257059.3:c.1520T>C	XP_005257116.2:p.Phe507Ser
XM_011524341.1:c.2240T>C	XP_011522643.1:p.Phe747Ser
XM_005257058.4:c.2438T>C	XP_005257115.2:p.Phe813Ser
XM_005257059.4:c.1520T>C	XP_005257116.2:p.Phe507Ser
NM_000088.4:c.2438T>C MANE Select	NP_000079.2:p.Phe813Ser