Canonical Allele Identifier: CA8645019

Gene: COL1A1

Linked Data

• dbSNP Id: rs773957707
• ExAC: 17:48270005 A / G
• gnomAD v2: 17-48270005-A-G
• gnomAD v4: 17-50192644-A-G
• MyVariant Identifiers: chr17:g.48270005A>G (hg19) ; chr17:g.50192644A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50192644A>G , CM000679.2:g.50192644A>G	GRCh38
NC_000017.10:g.48270005A>G , CM000679.1:g.48270005A>G	GRCh37
NC_000017.9:g.45625004A>G	NCBI36
NG_007400.1:g.13996T>C , LRG_1:g.13996T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1925T>C MANE Select	ENSP00000225964.6:p.Phe642Ser
ENST00000225964.9:c.1925T>C	ENSP00000225964.5:p.Phe642Ser
ENST00000476387.1:n.274T>C
NM_000088.3:c.1925T>C , LRG_1t1:c.1925T>C	NP_000079.2:p.Phe642Ser
XM_005257058.3:c.1925T>C	XP_005257115.2:p.Phe642Ser
XM_005257059.3:c.1007T>C	XP_005257116.2:p.Phe336Ser
XM_011524341.1:c.1727T>C	XP_011522643.1:p.Phe576Ser
XM_005257058.4:c.1925T>C	XP_005257115.2:p.Phe642Ser
XM_005257059.4:c.1007T>C	XP_005257116.2:p.Phe336Ser
NM_000088.4:c.1925T>C MANE Select	NP_000079.2:p.Phe642Ser