Canonical Allele Identifier: CA400221306

Gene: COL1A1

Linked Data

• MyVariant Identifiers: chr17:g.48273530C>A (hg19) ; chr17:g.50196169C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50196169C>A , CM000679.2:g.50196169C>A	GRCh38
NC_000017.10:g.48273530C>A , CM000679.1:g.48273530C>A	GRCh37
NC_000017.9:g.45628529C>A	NCBI36
NG_007400.1:g.10471G>T , LRG_1:g.10471G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.988G>T MANE Select	ENSP00000225964.6:p.Ala330Ser
ENST00000225964.9:c.988G>T	ENSP00000225964.5:p.Ala330Ser
ENST00000485870.1:n.313G>T
NM_000088.3:c.988G>T , LRG_1t1:c.988G>T	NP_000079.2:p.Ala330Ser
XM_005257058.3:c.988G>T	XP_005257115.2:p.Ala330Ser
XM_005257059.3:c.957+145G>T	XP_005257116.2:n.957+145G>T
XM_011524341.1:c.957+145G>T	XP_011522643.1:n.957+145G>T
XM_005257058.4:c.988G>T	XP_005257115.2:p.Ala330Ser
XM_005257059.4:c.957+145G>T	XP_005257116.2:n.957+145G>T
NM_000088.4:c.988G>T MANE Select	NP_000079.2:p.Ala330Ser